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Developmental biology and morphogenesis
12
- Analysis of Eya1 and Tbx1 mutants highlights interactions between the muscle and developing cartilage during external ear formation.
Using human embryos and mouse models of branchio-oto-renal and 22q11.2 deletion syndromes, this study shows that the genes Eya1 and Tbx1 are expressed in mesoderm-derived auricular muscle and are required for normal formation of the external ear (microtia). In mutant mice, failure of auricular muscle to form also disrupted cartilage differentiation, suggesting the muscle sends signals (involving Fgf and Bmp pathways) that are essential for the neural-crest-derived mesenchyme to shape the cartilage correctly. The findings identify the mesoderm as a previously underappreciated key player in external ear morphogenesis.
- Cell-cell interaction determines cell fate of mesoderm-derived cell in tongue development through Hh signaling.
Using mice carrying mutations in ciliary proteins (models of ciliopathies), this study shows that abnormal cranial neural crest-derived cells fail to activate Hedgehog signaling, preventing mesoderm-derived cells from differentiating into myoblasts and instead diverting them toward an adipocyte fate, which blocks normal tongue swelling formation. The authors show that these tongue anomalies (cleft, hamartoma, ankyloglossia) can be reproduced in wild-type mice through simple mechanical manipulation, suggesting possible future treatments for ciliopathies.
- Biallelic truncating variants in VGLL2 cause syngnathia in humans.
By sequencing six patients with syngnathia (congenital jaw fusion preventing mouth opening) from four Turkish and Moroccan families, this study identifies homozygous truncating variants in the VGLL2 gene as a genetic cause of this ultra-rare malformation. Surprisingly, neither zebrafish nor mice lacking VGLL2 showed a comparable craniofacial anomaly, suggesting that other vertebrates have compensatory mechanisms absent in humans.
- Current Approaches in the Development of Molecular and Pharmacological Therapies in Craniosynostosis Utilizing Animal Models.
This review describes how activating mutations in FGFR1-3 and TWIST1, responsible for more than three-quarters of the main craniofacial syndromes, disrupt the cellular and molecular regulation of cranial sutures. The authors review molecular and pharmacological approaches tested in vitro and in animal models to treat craniosynostosis without relying solely on surgery, particularly tyrosine kinase inhibitors, and discuss their potential for application in humans.
- A mathematical model for mechanotransduction at the early steps of suture formation.
This study proposes a mathematical model showing how the orientation of collagen fibres in response to local mechanical stress generates an instability that underlies the characteristic interdigitations of cranial sutures. The authors confirm the model using histology and synchrotron microtomography, and show, using a mouse with impaired mechanotransduction, that suture architecture is disrupted when forces are not properly interpreted — a mechanism conserved across several jawed vertebrates, from fish to mice.
- Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2).
Deleting the Pkd2 gene (a ciliary mechanoreceptor) in neural-crest-derived cells in mice, this study shows the emergence of multiple signs of craniofacial mechanical trauma (fractured molar roots, distorted incisors, alveolar bone loss, compressed temporomandibular joints) and abnormal skull shapes, appearing only after birth, once the head starts to experience significant mechanical stress. 3D facial analysis of patients with autosomal dominant polycystic kidney disease (also caused by Pkd2 mutations) revealed specific facial characteristics, some correlating with those seen in the mutant mice.
- The buccohypophyseal canal is an ancestral vertebrate trait maintained by modulation in sonic hedgehog signaling.
Studying mice with mutations in primary cilia and in genes of the sonic hedgehog (Shh) pathway, this study shows that the persistence into adulthood of the buccohypophyseal canal — an embryonic vestige linking the mouth to the pituitary region — depends on Shh signaling. Comparing extant and fossil species (including a placoderm), the authors show that persistence of this canal is an ancestral trait shared by many vertebrates, whose maintenance through evolution is linked to modulation of this signaling pathway.
- High-resolution imaging of craniofacial sutures: new tools for understanding the origins of craniosynostoses.
Using synchrotron X-ray microtomography, a very high-resolution imaging technique, this study explores for the first time the fine microanatomy of skull vault sutures in mice and in a fossil placoderm fish. The imaging revealed, in 3D, the distribution of osteocytes, the organization of vascular canals, the shape of suture borders, and the insertion of Sharpey's fibres, opening new perspectives for understanding the microanatomical origins of craniosynostosis.
- Ectoderm, endoderm, and the evolution of heterodont dentitions.
Comparing the molecular characteristics of pharyngeal endoderm and oral ectoderm in the mouse embryo, this study shows that molars develop from epithelium sharing molecular markers with pharyngeal endoderm, unlike incisors. This finding suggests that the two competing theories of tooth evolution (from externalized endodermal teeth, or from internalized ectodermal odontodes) could both be correct, offering an explanation for the diversity of heterodont dentitions in mammals.
- Development of the face.
[Article in French]
This chapter describes the morphogenetic processes that build the face from the three embryonic germ layers, detailing the formation and fusion of the five facial buds — the frontonasal bud and the paired maxillary and mandibular buds — along with the key molecular and cellular steps that govern this development.
- Development of the skull.
[Article in French]
This chapter describes the development of the neurocranium, composed of a base and a vault that follow two distinct growth logics: the skull base forms through endochondral ossification from a cartilaginous template, while the skull vault forms through direct membranous ossification, without an intermediate cartilage stage.
- Development and evolution of the jaw.
[Article in French]
This chapter shows how the evo-devo approach, which traces the origin of changes in body plans throughout evolution using paleontological, embryological, and comparative anatomy data, sheds light on the ontogeny and phylogeny of the jaw — knowledge that helps maxillofacial surgeons design coherent treatment plans.
Normal craniofacial growth
16
- Anatomy and mobility in the adult cadaveric craniocervical junction.
By quantifying in-vitro kinematics of the craniocervical junction in nine healthy cadaveric adults, this study reveals a strong relationship between bone shape (occipital, atlas, axis) and joint mobility. The authors propose that the musculoligamentous system drives large-amplitude movements while the shape and congruence of the joint facets govern secondary movements, insight that could help define clearer surgical goals for children with craniocervical junction anomalies.
- Geometric growth of the normal human craniocervical junction from 0 to 18 years old.
By compiling 3D geometric models from control children, this study describes normal growth of the craniocervical junction from birth to age 18, showing rapid growth in infancy followed by slower maturation until stability is reached at 18. It details the closure trajectories of the occipital bone's synchondroses and sutures and reveals coordinated growth between the C1 and C2 vertebrae, providing reference data for modeling both normal and abnormal growth in this region.
- A physico-mechanical model of postnatal craniofacial growth in human.
This study develops and validates a finite-element computational model that predicts normal growth of the cranial vault, face, and skull base. It highlights the central role of the skull base in the face's front-to-back growth and of maxillary expansion in its vertical growth, providing a tool to better understand craniofacial development and to guide treatment of conditions such as craniosynostosis.
- Development and growth of the forehead.
[Article in French]
This French-language review traces the craniofacial developmental processes leading to the positioning and early growth of the frontal ossification centers, followed by subsequent forehead growth, driven mainly by suture activity and by mechanosensory interactions with the functional environment (chiefly the growing brain). The authors relate these normal mechanisms to the understanding of craniofacial malformations.
- Functional adaptation of the infant craniofacial system to mechanical loadings arising from masticatory forces.
Analyzing 51 head CT scans of normal children (0 to 48 months) using imaging and finite element modeling, this study shows that masticatory muscle forces and bite force increase markedly between birth and age 4 (e.g., maximum bite force rises from 90.5 to 184.2 N between 3 and 48 months). The distribution of mechanical strain and stress progressively shifts from the calvaria to the face over postnatal development, shedding light on how masticatory forces may shape craniofacial morphology.
- Forehead shape in "Toulouse" artificial skull deformations.
[Article in French]
A review of artificial skull deformations, practiced in every culture since Prehistoric times using external devices applied to newborns. Forehead shape, shaped by the mechanical forces exerted on the forehead and occiput, is a major source of information for diagnosing and classifying these deformations. France, and Toulouse in particular, was the main European center for this practice, and its rich historical and osteological record allows its origins, mechanisms and motivations to be explored.
- Normal human craniofacial growth and development from 0 to 4 years.
Using an extensive set of clinical CT scans analyzed with 3D morphometrics, this study describes how the human cranium changes in size and shape over the first 48 months of life, showing greater change from 0 to 12 months than from 12 to 48 months, with no significant sexual dimorphism in overall cranial shape over this period. A single reference model of normal craniofacial growth and development is proposed for use in future studies.
- Paediatric skull growth models: A systematic review of applications to normal skulls and craniosynostoses.
This systematic review identifies 14 articles describing 17 models of pediatric skull growth, both normal and pathological (craniosynostoses), in children under 2 years old. It distinguishes descriptive models (statistical or deformation-based) from more comprehensive ones (finite element, diffusion), showing that the most successful models combine analysis of cranial vault shape with suture bone formation. The authors highlight the difficulty of generalizing a single model across all craniosynostosis types and of incorporating the brain's role in skull growth.
- Growth patterns and shape development of the paediatric mandible - A 3D statistical model.
Using CT scans from 242 healthy children aged 0 to 47 months, this study builds a 3D statistical model of the normal mandible and derives growth curves from it. Size dominates the observed shape variation by far (strongly correlated with age), with little difference between boys and girls, providing a reference tool useful for evaluating conditions that affect mandibular development.
- Intentional craniofacial remodelling in Europe in the XIXth century: Quantitative evidence of soft tissue modifications from Toulouse, France.
The first quantification, from 19th-century archival photographs, of the soft-tissue facial modifications caused by intentional skull deformations practiced in the Toulouse region. Geometric morphometric analysis of 31 frontal and 70 lateral photographs, combined with force measurements from the traditional Toulouse deformation device on a 3D-printed skull, reveals distinctive facial features caused by moderate forces applied to the skull vault.
- The 3D skull 0-4 years: A validated, generative, statistical shape model.
Using 3D reconstructions of the skull from 178 healthy children aged 0 to 4 years, this study builds a statistical shape model (3DMM) capable of generating realistic synthetic instances of the normal pediatric skull. The model proved compact and reliable (generalization error of 0.47 mm), offering a useful solution to the shortage of normative data in this field and serving as a reference base for other craniofacial growth work from the lab.
- Reproducibility of three-dimensional posterior cranial base angles using low-dose computed tomography.
This retrospective study aims to determine, among five 3D angles transposed from 2D cephalometric measurements, the most reproducible one for measuring the posterior cranial base angle on low-dose computed tomography — a region deeply involved in craniofacial development.
- Modelling human skull growth: a validated computational model.
This study develops and validates, in two steps, a finite-element computational model of skull growth during the first year of life: first compared with a physical 3D-printed model from a micro-CT scan of an infant skull, then compared with real clinical CT scans from 56 infants without craniofacial conditions. The computational model closely reproduced (within 8.3%) the skull dimensions and shape observed both in vitro and in vivo, paving the way for its future use in preoperative planning for craniofacial surgery.
- Zygomatic bone shape in intentional cranial deformations: a model for the study of the interactions between skull growth and facial morphology.
A study of zygomatic bone shape in 49 non-deformed and intentionally deformed skulls (antero-posterior, circumferential or Toulouse-type deformations). Each deformation type causes specific zygomatic shape changes, illustrating how external mechanical constraints on the skull vault influence midfacial growth — a useful model for understanding the facial effects of congenital skull malformations such as craniosynostoses.
- Shape and volume of craniofacial cavities in intentional skull deformations.
A CT-scan study of 39 intentionally deformed skulls and 19 controls, examining the volume and shape of the intracranial cavity, orbits and maxillary sinuses, as well as skull vault thickness. Intentional deformations locally alter bone thickness and change the shape of the orbits and maxillary sinuses in circumferential deformations, but do not change the overall volume of the cranial cavities.
- Craniofacial growth.
[Article in French]
This chapter describes how craniofacial growth results from the interaction between intrinsic genetic phenomena and extrinsic epigenetic phenomena, particularly mechanical ones, with mechanosensation and mechanotransduction mechanisms linking the external environment to cellular ossification and resorption processes.
Methodological work
13
- Objective evaluation of 3D modeling or geometric morphometrics enabling patient-specific treatment in craniosynostosis — a systematic review.
This systematic review examined 47 studies (out of 289 screened) that used statistical shape modeling or geometric morphometrics to objectively quantify craniosynostosis severity and guide personalized treatment. Most studies relied on principal component analysis and CT imaging, but the authors note substantial methodological inconsistencies and call for consensus and multicenter studies before these methods can be routinely used in clinical practice.
- Quantification of Facial Asymmetry: A Comprehensive Review of Methods and Applications.
[Article in French]
This French-language review examines current methods for quantifying facial asymmetry, present to varying degrees in every face, including 2D and 3D landmark-based approaches, surface analysis, and advanced imaging techniques used in orthodontics, orthognathic surgery, and craniofacial surgery. The authors conclude that future advances in machine learning, artificial intelligence, and 3D imaging should further improve the precision, automation, and speed of asymmetry assessment.
Innovative scientific illustration training for surgery residents in Paris.
This letter to the editor describes an innovative scientific illustration training program for surgical residents in Paris, born from a collaboration between AP-HP and École Estienne. Across eight sessions combining traditional drawing techniques with digital tools (graphic tablets, Procreate), residents practice on anatomical samples (muscle, liver, brain, bone) and each produce an illustration intended for scientific publication or teaching use. Mutually enriching for both the medical and artistic communities, the program is set to expand in spring 2025 to surgical interns across France, in partnership with AP-HP's new École de chirurgie.
- BounTI (boundary-preserving threshold iteration): A user-friendly tool for automatic hard tissue segmentation.
This paper presents BounTI, a new open-source algorithm for automatic segmentation of calcified tissues from CT images, designed to preserve boundaries between adjacent structures through iterative thresholding. The tool was successfully tested on craniofacial CT scans from several species (snake, lizard, mouse, human), including on lower-quality clinical images, and is made available to the research community as a Python library and standalone software.
- Guidance to develop a multidisciplinary, international, pediatric registry: a systematic review.
The European Reference Network ERN-CRANIO aims to improve craniofacial care across Europe; within it, the cleft lip and palate (CL/P) work stream identified the need for a shared pan-European registry to measure comparable outcome measures. This review analyzes twenty-four articles through narrative synthesis to identify the key themes required for a registry's long-term success, resulting in guidance covering twenty-one themes structured around quantitative and qualitative data, applicable to the design of any international, multidisciplinary pediatric registry beyond the field of clefts alone.
- Assessing craniofacial growth and form without landmarks: a new automatic approach based on spectral methods.
This study presents a fully automatic 3D shape-analysis method that requires no manual landmark placement, based on spectral approaches and nonrigid shape correspondence. Applied to children's CT scans, it successfully detects and differentiates trigonocephaly from metopic ridges, paving the way for automatic shape classification in quantitative medicine.
- Icex: Advances in the automatic extraction and volume calculation of cranial cavities.
This paper presents Icex, a new open-source software tool that automatically extracts and calculates the volume of cranial cavities (orbits, paranasal sinuses, nasal cavity, upper oral volume) from 3D CT-derived meshes, using 18 reference anatomical points. Tested on a human ontogenetic sample (0 to 19 years) as well as on fossil hominin skulls and non-human primates, the tool enabled a preliminary analysis of cranial sinus expansion during growth.
- An automatic facial landmarking for children with rare diseases.
Noting that existing automatic facial-landmarking tools are trained on healthy adults and perform poorly in children, this study develops an automatic landmarking pipeline adapted to children's facial and ear photographs, evaluated on patients with Treacher Collins syndrome. After comparing several detection and annotation methods on nearly 5,000 photographs, the best model achieved classification performance equivalent to manual annotation, providing an essential prerequisite for AI-assisted dysmorphology research in children.
- Computational diagnostic methods on 2D photographs: A review of the literature.
This literature review analyzes 27 publications (out of 1,515 screened) reporting automatic diagnostic methods for syndromes based on 2D facial photographs. Two-thirds of the studies aimed to diagnose one specific syndrome against controls, and classification using machine learning (89% of studies) or deep learning (11%) generally achieved diagnostic accuracy comparable to, or higher than, that of expert clinicians.
- Deep learning in medical image analysis: A third eye for doctors.
This systematic review of 25 articles (out of 352 screened, published between 2013 and 2019) examines how convolutional neural networks (CNNs) can improve image-based visual diagnosis in medicine. The authors conclude that these algorithms will not replace physicians but will help optimize routine tasks, with a particularly strong expected impact in radiology and pathology, while stressing the key role of practitioners in developing such tools.
- Three-dimensional reconstructions from computed tomographic scans on smartphones and tablets: a simple tutorial for the ward and operating room using public domain software.
This tutorial describes a simple, accessible method for producing, transferring, and sharing good-quality 3D reconstructions from CT scans on smartphones and tablets, using public domain software to work around the challenges posed by the size of DICOM image stacks in the ward or operating room.
- Measurement of nasal airflow and aerophonoscopy.
[Article in French]
Diagnosis and treatment of rhinolalia are key elements in the follow-up of cleft palate patients, whose nasal airflow is usually quantified using nasalance-measuring devices or aerophonoscopy. This study, conducted at the Maxillofacial Surgery Department of Nantes University Hospital, evaluates the inter- and intra-individual reproducibility of quantitative values provided by the aerophonoscope, a device originally designed in the department twenty-five years earlier, with a view to using it as a reference tool for measuring nasal airflow after cleft surgery.
- The application of computer-based phylogenetic reconstruction programs to the study of a text's manuscript tradition: the example of chapter XI of the Ars Rhetorica of Pseudo-Dionysius of Halicarnassus.
[Article in French]
This study applies phylogenetic reconstruction programs, originally developed for evolutionary biology, to the manuscript tradition of chapter XI of the Ars Rhetorica of Pseudo-Denys of Halicarnassus, which survives in twenty-three versions descended from a single original text through imperfect copying. By treating copying variants as evolutionary characters, the authors reconstruct the manuscripts' family tree and show that the divergences stem mainly from mechanical copying errors rather than scholarly corrections, illustrating the methodological kinship between stemmatics and phylogenetics.
3D-printing
9
- Validation of a 3D-Printed Multimaterial Transcanal Tympanoplasty Simulator for Endoscopic Ear Surgery.
This study validates a multimaterial 3D-printed transcanal tympanoplasty simulator reproducing the hard and soft tissues of the temporal bone from an anonymized CT scan. Twelve residents and six experts in endoscopic ear surgery rated the simulator favorably overall (face and content validity scores near 6/7) and suitable for surgical training, with satisfaction comparable to cadaveric models.
- How are stomas managed in low- and lower-middle income countries?
This systematic review (33 studies out of 937 screened, 4,689 patients) examines stoma management in low- and lower-middle-income countries, which represent over a third of the global population yet remain underrepresented in the literature. With 93% of patients relying on non-commercial solutions — often just a plastic bag taped to the skin — for lack of access to proper stoma supplies, complication rates are far higher and quality of life lower than in high-income countries. The authors call for affordable alternatives to homemade devices, an unmet need directly relevant to custom 3D-printed medical device design.
- Development of 3D-printed female genital models to improve consent, education, and medico-legal communication.
This article presents the development of 3D-printed female genital models designed to improve informed consent, medical education, and medico-legal communication, with the participation of Delphine Prieur, co-director of the PRIM3D platform.
- Quality versus emergency: How good were ventilation fittings produced by additive manufacturing to address shortages during the COVID19 pandemic?
This study evaluates the quality of five 3D-printed ventilation fitting designs used during the COVID-19 pandemic to address shortages of intensive-care equipment, compared with industrial models. Polyjet-printed parts had no sealing defects, while fused-deposition-modeling-printed parts had consistent leaks that could be corrected with appropriate coating; the authors conclude that 3D printing is a valid technology in shortage situations, provided rigorous quality control and well-documented printing protocols are used.
- In-house 3D printing: Why, when, and how? Overview of the national French good practice guidelines for in-house 3D-printing in maxillo-facial surgery, stomatology, and oral surgery.
Written by a group of experts from the French Society of Stomatology, Maxillo-Facial Surgery and Oral Surgery, this article proposes the first national good-practice guidelines for in-house 3D printing in French hospitals' maxillo-facial surgery, stomatology, and oral surgery departments. It notes that the technical challenges of printers are now largely solved, and that current issues are mainly economic and regulatory, requiring close collaboration between clinicians, engineers, and regulatory specialists.
- 3D-printed contact-free devices designed and dispatched against the COVID-19 pandemic: The 3D COVID initiative.
In response to the COVID-19 pandemic, the authors describe designing, producing, and distributing in industrial quantities three 3D-printed objects intended to limit direct contact and viral transmission: hands-free door openers, door hooks, and button pushers. These devices, made freely available to Greater Paris hospitals and public institutions, illustrate the value of additive manufacturing during a public health crisis.
- 3D-printed shields for slit lamps produced during the COVID-19 pandemic.
During the COVID-19 pandemic, ophthalmologists using slit lamps were at risk of SARS-CoV-2 contamination, as was the device itself. The authors propose a 3D-printed shield fixed on the chin rest on the patient side, aiming to limit viral spread both on the lamp and toward the clinician.
- 3D-printed suture guide for thoracic and cardiovascular surgery produced during the COVID19 pandemic.
In response to medical equipment shortages during the COVID-19 pandemic, the authors present the design and manufacture of a 3D-printed suture guide for cardiac and vascular surgery, as a concrete example of a medical device produced in-house at the hospital during the health crisis. This work illustrates the potential of hospital-based 3D printing while underscoring the need for regulatory adaptation.
- Implementation of a digital chain for the design and manufacture of implant-based surgical guides in a hospital setting.
This article describes the implementation, in a large Paris hospital, of a complete digital workflow for designing and manufacturing implant-based surgical guides, compliant with European medical device regulation (EU/2017/45). The authors detail how each step of the digital workflow, from the patient pathway to the creation of the guide, was adapted to regulatory requirements while accounting for the organizational constraints specific to a large hospital.
AI-based syndrome recognition - AIDY
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- Evaluation of a New Inclusive Next-Generation Synthetic Face Tool for Dysmorphology.
To address the shortage of data on rare genetic syndromes and underrepresented populations, this study generated 4,432 synthetic faces via diffusion models across ten rare syndromes, used to train a phenotyping algorithm (ArcFace). Adding these synthetic images to real training data improved diagnostic accuracy (from 76.6% to 86.9%), with the largest gains for ultra-rare syndromes and Asian individuals, demonstrating the value of synthetic data in making AI-based dysmorphology tools more equitable.
- Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.
Using photographs from 58 patients (29 with Coffin-Siris syndrome, 29 controls), this study developed a next-generation facial recognition model that diagnosed the rare syndrome with 90% accuracy on an independent validation group including centers in India and Georgia. The authors also generated synthetic faces of children with the syndrome but found no facial shape difference between the different genotypes involved.
- Humanitarian Facial Recognition for Rare Craniofacial Malformations.
As a case study, the authors used a facial recognition algorithm trained on a large photographic database to analyze a news photograph of a refugee family, successfully identifying a child showing signs of Apert syndrome. This work illustrates the potential of AI-based facial recognition applied to public data to locate at-risk children during humanitarian crises such as wars and natural disasters, and to direct targeted medical support.
- AI-based diagnosis and phenotype–genotype correlations in syndromic craniosynostoses.
Analyzing 2,228 facial photographs from 541 patients (1979-2023), this study trained an AI model to diagnose syndromic craniosynostoses (Apert, Crouzon, Muenke, Pfeiffer, Saethre-Chotzen), achieving 70.2% accuracy on an independent validation set. It also found that a specific FGFR2 splice-donor-site variant is associated with a milder phenotype in Crouzon-Pfeiffer syndrome.
- Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome.
Using 1,448 facial photographs from 634 patients across 6 centers, this study proposes a next-generation phenotyping model that distinguishes Kabuki syndrome from controls with 95.8% accuracy, and differentiates the two genetic subtypes (KMT2D vs KDM6A) with strong performance. The model outperformed existing commercial AI solutions as well as expert clinicians.
- Artificial intelligence-based diagnosis in fetal pathology using external ear shapes.
This study trained an automatic model to recognize syndromic ears in fetuses, applied to CHARGE syndrome and Mandibulofacial Dysostosis Guion-Almeida type, using 1,489 ear photographs from children. Tested on 51 fetal photographs, the model achieved an overall accuracy of 72.6%, with good performance for each group, making it the first automatic fetal ear phenotyping model — promising, but requiring further validation before diagnostic use.
- AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes.
Training an artificial intelligence model on 1,592 ear photographs (550 patients), this study proposes the first automatic detection tool for Mandibulofacial Dysostosis with Microcephaly (MFDM) based solely on external ear shape. The model detected MFDM with 96.9% accuracy against controls, and distinguished MFDM from its main differential diagnoses (Treacher Collins, Nager, CHARGE syndromes) with balanced accuracies around 81%, opening promising prospects for local diagnostic support and referral to expert centers.
- Convolutional mesh autoencoders for the 3-dimensional identification of FGFR-related craniosynostosis.
This study proposes a craniofacial diagnostic system based on convolutional mesh autoencoders that analyze surface topography (3D photographs as well as CT scans) rather than texture, to identify three genetically distinct syndromes (Muenke, Crouzon, Apert). The automatic diagnosis outperformed expert clinical diagnosis, reaching 99.98% accuracy, 99.95% sensitivity and 100% specificity, paving the way for diagnostic support usable in both medical imaging and clinical photography.
FGFR-related syndromes
28
- Morphological analysis of posterior fossa in Apert and Crouzon syndromes before and after posterior cranial vault expansion.
Comparing scans from 28 children with Apert or Crouzon syndrome to 51 controls, this study examines the effect of posterior cranial vault expansion surgery on posterior fossa volume and shape. While the surgery does increase posterior fossa volume in Apert patients, it does not improve fossa shape in either Apert or Crouzon patients, suggesting other factors need investigation to optimize this procedure.
- Differential impact of Crouzon and Apert syndromes on upper airways morphology: implications for obstructive sleep apnea.
Comparing upper airway shape in 37 children with syndromic craniosynostosis (Crouzon, Apert) to 53 control children, this study found that Crouzon syndrome mainly alters the oropharynx while Apert syndrome affects the nasopharynx more. No direct link was found between airway shape and sleep apnea severity, but the findings confirm syndrome-specific airway differences that could help refine respiratory diagnosis and tailor treatment.
- The influence of closed sutures on cranial morphology in Apert and Crouzon syndromes: a quantitative analysis.
Using 3D morphometric analysis of scans from 72 unoperated patients (51 Crouzon, 21 Apert) and 289 controls, this study found that Apert patients show a distinct turricephalic skull shape (taller, narrower), while Crouzon patients are more variable, with subgroups linked to different patterns of suture fusion. These distinct morphological signatures could help guide surgical planning and refine phenotype-genotype correlations.
- Respiratory and craniofacial management in children with Apert syndrome.
This study describes the respiratory and craniofacial management of 28 children with Apert syndrome followed over 25 years at a French reference center. A third had obstructive sleep apnea, and nearly all required at least one craniofacial procedure (posterior vault decompression, fronto-orbital advancement, fronto-facial monobloc, or Le Fort III), with the treatment protocol evolving toward earlier cranial expansion and airway surgery and later midface advancement.
- Frontal Bone Resorption after Frontofacial Monobloc Advancement in FGFR-Related Craniosynostoses: Predictive Factors.
In 63 children with Crouzon or Pfeiffer syndrome who underwent fronto-facial monobloc advancement, this study identifies clinical factors associated with resorption of the frontal bone flap, which can occur months to years after surgery. Use of absorbable sutures rather than steel wires and persistent retrofrontal dead space at 2 years were significantly associated with greater resorption, leading the authors to recommend rigid osteosynthesis and follow-up of brain expansion after distraction.
- FGFR antagonists restore defective mandibular bone repair in a mouse model of osteochondrodysplasia.
Using mouse models of Crouzon syndrome and hypochondroplasia, this study shows that activating FGFR2 and FGFR3 mutations disrupt mandibular fracture repair in different ways: abnormally high bone mineralization in Crouzon mice, and defective repair with pseudarthrosis in hypochondroplasia mice. Treatment with a tyrosine kinase inhibitor (infigratinib) or a C-type natriuretic peptide (vosoritide) fully rescued the defective bone repair in hypochondroplasia mice, suggesting a potential treatment avenue for patients with these FGFR3 mutations.
- A European Multicenter Outcome Study of Perioperative Airway Management Policies following Midface Surgery in Syndromic Craniosynostosis.
This European multicenter study of 275 patients undergoing monobloc or Le Fort III surgery found that immediate extubation after midface advancement is a safe option associated with fewer complications (notably less postoperative pneumonia) than delayed extubation, even in patients with moderate to severe sleep apnea. The risk of intubation-related complications rose by 21% per extra day of intubation, supporting early extubation as routine practice.
- Optic nerve elongation during fronto-facial surgery for Crouzon syndrome: 3D quantification and clinical implications.
In 26 patients with Crouzon syndrome undergoing fronto-facial monobloc advancement with internal distraction, this study used CT scans to measure optic nerve elongation during distraction. The nerve elongates and its intraorbital cross-section narrows, and in the two patients with transient visual impairment this cross-sectional reduction correlated with functional severity, supporting close ophthalmological monitoring during distraction.
- The first fronto-facial monobloc advancement in Ukraine: developing craniofacial surgery in OHMATDYT hospital (Kyiv).
This study reports the preparation, execution, follow-up, and outcomes of the first fronto-facial monobloc advancement (FFMBA) performed in Ukraine, at OHMATDYT National Specialized Children's Hospital in Kyiv — a key procedure for syndromic craniosynostoses (Crouzon-Pfeiffer, Apert) that addresses raised intracranial pressure, exophthalmia, obstructive sleep apnea, and class III malocclusion in a single operation. The authors outline perspectives for establishing a multidisciplinary craniofacial surgery team at OHMATDYT — a partnership made especially meaningful by Russia's attempt to destroy the hospital on 8 July 2024.
- Craniofacial growth and function in achondroplasia: a multimodal 3D study on 15 patients.
This multimodal study of 15 children with achondroplasia combines clinical data, sleep polygraphy, 2D cephalometrics and 3D CT-based morphometrics. It shows a characteristic craniofacial phenotype (maxillo-zygomatic retrusion, prominent forehead, early fusion of skull-base synchondroses) that worsens with age, and establishes a significant correlation between the severity of maxillo-mandibular retrusion and the severity of obstructive sleep apnea.
- Secondary Le Fort III after Early Fronto-Facial Monobloc Normalizes Sleep Apnea in Faciocraniosynostosis: A Cohort Study.
In 17 patients who had already undergone fronto-facial monobloc advancement for faciocraniosynostosis and still had persistent sleep apnea, a secondary Le Fort III procedure with distraction normalized the apnea-hypopnea index in 88% of them (from a mean of 21.5/h before to 3.9/h after). Two of four tracheostomized patients were decannulated, confirming the value of secondary Le Fort III for treating residual or relapsing sleep apnea.
- Growth charts in FGFR2- and FGFR3-related faciocraniosynostoses.
Collecting height and weight data from 70 patients followed between 2000 and 2021 for FGFR-related faciocraniosynostosis, this study shows that these patients have significantly reduced height and weight compared with controls, particularly between ages 1-3 and after age 8, and that even patients treated with growth hormone remain below normal values. These findings broaden the spectrum of extracranial anomalies associated with activating FGFR mutations and suggest the value of systematic pre-pubertal endocrine assessment.
- FGFR3 overactivation in the brain is responsible for memory impairments in Crouzon syndrome mouse model.
Creating the first mouse model (Fgfr3A385E/+) of Crouzon syndrome with acanthosis nigricans, the authors show that these mice do not develop craniosynostosis but do exhibit severe memory impairment, a structurally abnormal hippocampus, and overactivation of the MAPK/ERK and Akt signaling pathways. Pharmacological inhibition of FGFR3 (BGJ398), given systemically or directly to the brain, rescued the memory impairment, demonstrating for the first time that brain FGFR3 overactivation can impair cognition independently of any skull abnormality.
- Dental phenotype in Crouzon syndrome: A controlled radiographic study in 22 patients.
This controlled radiographic study of 22 children with Crouzon syndrome found that permanent, but not primary, teeth were globally reduced in size (crown height and cervical diameters reduced by 5.5 to 6.3%) compared with age-matched controls, without true microdontia. These findings confirm the involvement of the FGFR2 gene in human dental development, consistent with Crouzon mouse models.
- Craniosynostosis: Monobloc Distraction with Internal Device and Its Variant for Infants with Severe Syndromic Craniosynostosis.
In a series of 147 patients with severe syndromic craniosynostosis who underwent fronto-facial monobloc advancement with internal distractors, including 25 aged 18 months or younger, this study shows the technique to be safe and effective, with half of tracheostomized patients decannulated after surgery. Very early monobloc advancement with internal distractors appears to be a reliable treatment to protect ophthalmic, neurologic, and respiratory function in the most severely affected infants.
- Improvement of Periorbital Appearance in Apert Syndrome After Subcranial Le Fort III With Bipartition and Distraction.
In 15 children with Apert syndrome treated with subcranial Le Fort III osteotomy combined with bipartition and distraction, this study shows a lasting normalization of palpebral fissure inclination and a significant reduction in the ratio of interpupillary to outer-canthal distance. These results confirm that the technique effectively and durably improves the periorbital region characteristic of Apert syndrome.
- Excessive ossification of the bandeau in Crouzon and Apert syndromes.
Analyzing CT scans from 210 patients (25 Crouzon, 10 Apert, 25 controls), this study shows that after fronto-facial monobloc advancement, supra-orbital bar bone thickness increases significantly, by more than 2 mm at one year in Apert patients, with the effect influenced by age at surgery and FGFR2 mutation type. Surgeons should therefore remain aware of the potential need for secondary surgery in this area after monobloc advancement.
- Early mandibular morphological differences in patients with FGFR2 and FGFR3-related syndromic craniosynostoses: A 3D comparative study.
Comparing mandibular shape using 3D geometric morphometrics in 40 young patients (Crouzon, Apert, Muenke, Crouzonodermoskeletal syndromes) with 40 matched controls, this study confirms early and distinct mandibular shape differences depending on the type of FGFR2- or FGFR3-related syndromic craniosynostosis. FGFR2-related forms were characterized by an open gonial angle and short ramus, while FGFR3-related forms showed a high, prominent symphysis, reinforcing the hypothesis of a phenotype-genotype correlation at the mandibular level.
- The influence of fronto-facial monobloc advancement on obstructive sleep apnea: An assessment of 109 syndromic craniosynostoses cases.
In 109 patients followed over 14 years for syndromic craniosynostosis, with 407 polysomnographic studies in total, this study shows that fronto-facial monobloc advancement with internal distraction effectively reduces severe obstructive sleep apnea, especially when combined with early airway surgery and early posterior vault expansion. The authors recommend a protocol combining early posterior vault expansion and airway surgery, followed by fronto-facial advancement performed as late as possible (after 2.5 years of age).
- Defining Critical Ages for Orbital Shape Changes after Frontofacial Advancement in Crouzon Syndrome.
- Correcting Exorbitism by Monobloc Frontofacial Advancement in Crouzon-Pfeiffer Syndrome: An Age-Specific, Time-Related, Controlled Study.
In 28 patients with Crouzon-Pfeiffer syndrome compared to 40 controls, this study shows that monobloc osteotomy with distraction significantly increases orbital volume, correcting exorbitism, though this correction is not driven by orbital volume expansion alone. The authors describe early accelerated growth followed by premature growth arrest of the orbit between ages 10 and 14, consistent with the delayed clinical relapse and need for secondary surgery seen in this syndrome.
- Severe macroglossia after posterior fossa and craniofacial surgery in children.
Massive tongue swelling can occur after posterior fossa or craniofacial surgery, a phenomenon that remains poorly understood despite several proposed hypotheses; severe postoperative macroglossia can be life-threatening due to upper airway obstruction. The authors report three cases of severe postoperative macroglossia following cervical spine, craniofacial, and posterior fossa surgery, requiring specialized maxillofacial management and a prolonged intensive care stay, and discuss the causal factors involved in order to guide prevention and treatment in pediatric patients.
- Anterior Skull Base and Pericranial Flap Ossification after Frontofacial Monobloc Advancement.
This study evaluates postoperative ossification of the anterior skull base and pedicled pericranial flaps after frontofacial monobloc advancement in 22 patients (14 with Crouzon syndrome, 5 with Pfeiffer syndrome, 3 with Apert syndrome), operated at a median age of 3.1 years. At one and five years, the distraction gap was completely ossified along the anterior skull base midline in all patients, and the ossified pedicled flaps together with the skull base were thicker in patients than in controls at both time points.
- Dental consequences of pterygomaxillary dysjunction during fronto-facial monobloc advancement with internal distraction for Crouzon syndrome.
In 15 patients with Crouzon syndrome who underwent fronto-facial monobloc advancement with pterygomaxillary dysjunction via a superior approach, this study documents significant dental consequences (missing teeth, morphological anomalies), which were more pronounced when surgery was performed at a younger age. These findings call for comparison with the dental outcomes of an intra-oral pterygomaxillary dysjunction approach.
- Anterior Skull Base and Pericranial Flap Ossification after Frontofacial Monobloc Advancement.
In 22 patients who underwent fronto-facial monobloc advancement (Crouzon, Pfeiffer, Apert syndromes), this study shows that at one and five years after surgery, the skull base had fully reossified at the midline in all patients, with pedicled pericranial flaps thicker than in controls. These findings suggest that routinely performing such flaps promotes reossification of the anterior skull base after this type of surgery.
- Craniofacial strategy for syndromic craniosynostosis.
The complexity of treatment of faciocraniosynostosis justifies management in a reference center for rare diseases. Growth disturbances of the skull and face vary according to the type of FGFR mutation (Crouzon, Pfeiffer, Apert), so the strategy is adapted to the phenotype: posterior expansion with or without distraction around 6 months to limit descent of the cerebellar tonsils and prevent turricephaly; fronto-facial monobloc advancement with internal distraction around 18 months in case of severe exorbitism or breathing impairment; or a dissociated strategy (fronto-orbital advancement followed by Le Fort III osteotomy). The evolving growth dictates the timing of subsequent surgeries, guided by monitoring of intracranial pressure (fundus examination) and breathing (polysomnography); Le Fort III and transverse maxillary distraction may be repeated if necessary. Orthognathic surgery is almost always required after age 14, before the final aesthetic refinements (rhinoplasty, genioplasty, canthopexies, fat grafting…).
- Fronto-facial advancement and bipartition in Crouzon-Pfeiffer and Apert syndromes: Impact of fronto-facial surgery upon orbital and airway parameters in FGFR2 syndromes.
In 28 Crouzon-Pfeiffer patients and 13 Apert patients compared with 40 controls, this study uses 3D analysis to examine how fronto-facial surgery (monobloc advancement for Crouzon-Pfeiffer, bipartition for Apert) reshapes the orbit and corrects the oculo-orbital disproportion specific to each syndrome. The results confirm that these two techniques specifically address the morphological characteristics of each syndrome.
- Central nervous system malformations and deformations in FGFR2-related craniosynostosis.
Examining four severe fetal cases of FGFR2-related Pfeiffer syndrome and studying Fgfr2 gene expression in mice, this study shows that the brain abnormalities in this syndrome result not only from mechanical deformation caused by the abnormal skull shape, but also from FGFR2-driven developmental disorders (megalencephaly, midline anomalies, amygdala and hippocampus malformations). These findings support careful cognitive screening, even in milder forms of Pfeiffer syndrome.
Single-suture craniosynostoses
16
- Renier H-cranioplasty Modifies Skull Shape More Than Total Vault Remodeling in Nonsyndromic Scaphocephaly: Artificial Intelligence–based Study.
This study uses artificial intelligence to assess craniofacial morphology in 358 patients with nonsyndromic scaphocephaly (from a database of 1,369 patients, 1,544 2D photographs), comparing two age-specific surgical techniques: Renier H-cranioplasty (130 patients) and total vault remodeling (TVR, 119 patients). Significant morphological differences were found between patients and controls, both before and after surgery: early Renier H-cranioplasty reduced the anteroposterior diameter more effectively than late TVR, but neither technique fully normalized postoperative skull morphology.
- Is a standardized severity index needed in unicoronal craniosynostosis? Challenges in developing an objective metric.
This study compared existing severity indices for unicoronal craniosynostosis with a new statistical shape model (UCS-SI) built from 77 patients and 75 controls. The UCS-SI correlated strongly with expert severity rankings and outperformed classical indices, with the most informative shape variation located in the frontal, supraorbital and parietal regions. The authors conclude that such an objective index is promising, though a full severity algorithm rather than a single score may ultimately be needed.
- Craniosynostosis as a cause of intracranial hypertension in Alagille syndrome: a case series of 6 consecutive pediatric patients.
This series of 6 children with both Alagille syndrome and craniosynostosis shows that this rare association can be an under-recognized cause of chronic intracranial hypertension. All patients who required surgery saw prompt improvement in papilledema after biparietal craniotomy, leading the authors to recommend systematic craniosynostosis screening in Alagille syndrome patients with papilledema.
- Surgical Correction of Unicoronal Synostosis: Fronto-Orbital Distraction versus Calvarial Switch.
In 66 children operated for isolated unicoronal synostosis, this study compares two surgical techniques: fronto-orbital distraction (FOD) and calvarial switch (CS). At 3-year follow-up, both techniques significantly improved orbital angles, but FOD achieved superior correction of orbital dystopia and better overall symmetry while being less invasive, potentially making it the preferred method for this condition.
Understanding the heterogenicity of unicoronal synostosis — a morphometric analysis of cases compared to controls.
- New diagnostic criteria for metopic ridges and trigonocephaly: a 3D geometric approach.
Using CT scans from 90 patients with trigonocephaly, 27 with metopic ridges, and 90 controls, this study developed an automatic tool measuring frontal curvature along the metopic suture, distinguishing these two often-confused diagnoses with over 92% sensitivity and specificity, and up to 100% accuracy when combining six measurements. These diagnostic tools could help clinicians tell the two conditions apart, pending broader clinical validation.
- Forehead in craniosynostoses.
[Article in French]
This French-language review describes the forehead deformities associated with craniosynostosis (changes in height, width and angulation) and the surgical remodeling techniques used in childhood, today often performed less invasively using distraction and springs. The most frequent sequelae are temporal hollowing, corrected with fat grafting, and the presence of a genetic mutation increases the risk of reoperation within the first six years of life.
- A preliminary analysis of replicating the biomechanics of helmet therapy for sagittal craniosynostosis.
Using a 3D model of a 4-month-old infant treated for sagittal craniosynostosis, this study simulated three durations of postoperative helmet therapy (2, 5, and 8 months) after endoscopic strip craniectomy. Results suggest that longer helmet use has a beneficial impact on long-term skull morphology, with no notable difference in intracranial-volume pressure between the tested durations, though these preliminary findings still require validation.
- Ophthalmological findings in children with unicoronal craniosynostosis.
This retrospective study of 28 children with unicoronal craniosynostosis found a high rate of visual impairment: 36% had amblyopia, astigmatism was more pronounced on the side opposite the synostosis, and 71% had strabismus, most often esotropia with a vertical component. The authors emphasize the need for strict ophthalmological follow-up to diagnose and prevent these visual complications early.
- A Computational Framework to Predict Calvarial Growth: Optimising Management of Sagittal Craniosynostosis.
This study presents a computational framework to predict and compare calvarial growth following different surgical reconstruction techniques for sagittal craniosynostosis. The results show how each technique interacts differently with the growing intracranial volume, offering a tool to help choose the optimal management approach and reduce the risk of complications or repeat surgery.
- Management of sagittal craniosynostosis: morphological comparison of eight surgical techniques.
This retrospective multicenter study compares morphological outcomes across eight surgical techniques used to treat sagittal craniosynostosis, in 101 operated patients versus 241 controls. No significant difference in morphological outcome was found between the techniques, though most showed a tendency toward relapse, and more invasive procedures performed at older ages appeared to result in larger intracranial volume than less invasive techniques performed earlier.
- Scaphocephaly and increased intra-cranial pressure in non-operated adults: A controlled anthropological study on 21 skulls.
Using CT imaging of 21 historical skulls with complete sagittal suture fusion (scaphocephaly) and 17 control skulls from the collections of the French National Museum of Natural History, this study looked for indirect signs of chronic raised intracranial pressure in never-operated adults. No significant overall difference was found between the two groups, but 5 of the 21 scaphocephalic skulls showed at least 3 suggestive radiological signs, supporting the view that scaphocephaly correction should still be considered a functional procedure pending clearer evidence.
- Predicting and comparing three corrective techniques for sagittal craniosynostosis.
Using a generic finite-element model based on a 4-month-old patient, this study simulates and compares three surgical reconstruction techniques for sagittal craniosynostosis and predicts skull and brain growth up to 60 months of age. The predictions closely resembled real-world and literature data, laying the groundwork for future comparisons of additional reconstructive techniques.
- Using Sensitivity Analysis to Develop a Validated Computational Model of Post-operative Calvarial Growth in Sagittal Craniosynostosis.
This finite-element study explores how different parameters (material properties, bone-formation modeling, presence or absence of cerebrospinal fluid) influence predictions of postoperative skull growth in a 4-month-old patient treated for sagittal craniosynostosis. The elastic modulus assigned to the craniectomies proved to be the most influential factor on predicted skull morphology, laying methodological groundwork for future comparisons of reconstruction techniques.
- Extraocular muscle positions in anterior plagiocephaly: V-pattern strabismus explained using geometric mophometrics.
Using MRI and geometric morphometrics in 15 patients with anterior plagiocephaly (unicoronal craniosynostosis) and 24 controls, this study is the first to objectively quantify two classically described orbital abnormalities: eyeball excyclorotation and malposition of the superior oblique muscle's trochlea. These findings confirm the role of trochlear malposition in these patients' strabismus and highlight the value of MRI in surgical management of strabismus.
- Orbital shape in intentional skull deformations and adult sagittal craniosynostoses.
Comparing orbital shape and volume, using CT scans of historical skulls from the French National Museum of Natural History, across 32 skulls with intentional cranial deformation, 21 scaphocephalic skulls (unoperated sagittal craniosynostosis), and 17 control skulls, this study shows that both types of deformation significantly and symmetrically alter orbital shape relative to controls. Antero-posterior and circumferential deformations reduced orbital volume, unlike scaphocephaly, though the approach could not identify modifications specific to each type of deformation.
Facial clefts and Pierre Robin sequence
16
- Between unity and disparity: current treatment protocols for common orofacial clefts in European expert centres.
Management of orofacial clefts varies considerably across Europe. This study, based on a structured questionnaire distributed to 26 expert centres of the European Reference Network ERN CRANIO, identified 33 unique surgical protocols for isolated cleft palate, 54 for unilateral cleft lip and palate, and 51 for the bilateral form, revealing a trend toward early hard palate closure, converging timing of lip closure, and the popularity of primary cleft rhinoplasty — alongside marked variation in alveolar closure timing and the number of standard surgeries, calling for objective protocol-selection criteria and terminological consensus.
- Characterizing Mandibular Morphology in Robin Sequence-A 3D Statistical Shape Analysis.
This study built 3D mandible models from CT scans of 84 children with isolated Robin sequence and 48 with non-isolated Robin sequence, compared with age-matched controls. Mandibles in both groups had shorter condylar necks, shorter mandibular bodies, and a more rounded symphysis than controls, with these differences persisting throughout the age range studied, suggesting a persistent dysmorphology rather than simple transient delay.
- Parental and Child Diagnosis Storytelling and Self-Image in French Children With Cleft lip With or Without Cleft Palate.
Psychosocial adjustment can be challenging for children with cleft lip with or without cleft palate (CL±P). This prospective study of 54 children and their parents (average age 5.6 years), using semistructured interviews and a projective test, found that only 30% of children explained their cleft in a way appropriate for peers (birth, surgery, scar location), this ability depending on parental narrative and education methods rather than language performance, and being linked to self-image and perceived family acceptance. Cleft teams should help families build a complete story, illustrated with photographs, using a positive and accepting approach.
- Hyoid bone morphology in patients with isolated robin sequence - A case-control study utilizing 3D morphable models.
Comparing 3D reconstructions of the hyoid bone in 23 children with isolated Robin sequence and 46 age-matched controls, this study found a less voluminous hyoid bone with more widely diverging greater horns in patients. The authors also built, from 197 scans of healthy children, a 3D statistical shape model of normal hyoid bone morphology, allowing these Robin-sequence-specific differences to be objectively detected.
- Maxillary shape at the end of puberty in operated unilateral cleft lip and palate: A geometric morphometric assessment using computer tomography.
Cleft lip and palate (CLP) surgery interferes with maxillary growth and contributes to transversal and sagittal growth impairment. This retrospective study evaluates, using geometric morphometrics on 15 3D landmarks from CT-scans, maxillary shape at the end of pubertal growth in 16 patients with unilateral CLP operated under a standardized protocol (primary closure of the lip and soft palate at 6 months, early secondary gingivoalveoloplasty combined with hard palate repair at 18-36 months), compared with 20 age-matched controls. Maxillary shape differed significantly from controls but only to a limited extent, with early secondary gingivoalveoloplasty resulting in an overall satisfactory maxillary shape.
- Connected toothbrush, augmented reality and oral hygiene in children with cleft lip and palate.
- Maxillary shape after primary cleft closure and before alveolar bone graft in two different management protocols: A comparative morphometric study.
Assessing outcomes in cleft surgery is a technical challenge requiring dedicated morphometric tools. This study compares, using geometric morphometrics on cone-beam CT images at age 5, the palatal shape of two cohorts managed under different protocols: early lip closure (1-3 months) followed by combined soft and hard palate closure (6-9 months) versus later combined lip and soft palate closure (6 months) followed by hard palate closure (18 months). Inter-canine distance was significantly narrower with the early protocol, and the premaxillary region was positioned more inferiorly; later functional protocols yielded larger inter-canine distances and more anatomical premaxillary positions at age 5.
- Secondary nasal surgery with cleft palates.
[Article in French]
Residual nasal deformity remains the main concern of patients with cleft lip and palate. While primary nasal surgery has significantly improved outcomes, secondary correction of nasal morphology is often still needed; respecting tissues during primary surgery greatly facilitates secondary corrections, and anatomical reconstruction should not hesitate, in cases of major lip-nose sequelae, to revise the entire lip and nose according to the principles of primary surgery.
- Minimally invasive versus standard approach in LeFort 1 osteotomy in patients with history of cleft lip and palate.
This study compares, through meta-analysis and a retrospective series of 18 cases, the efficiency and complications of standard Le Fort I osteotomy with those of a minimally invasive mucosal approach in patients with cleft lip and palate (CL/P) requiring orthognathic surgery. The minimally invasive approach showed a trend toward less relapse and fewer complications than the conventional approach, notably with no palatal fistula in the local series versus 21.4% in the meta-analysis, suggesting it is well suited to managing CL/P sequelae.
- Quality of life and nasal splints after primary cleft lip and nose repair: Prospective assessment of information and tolerance.
This prospective study uses two questionnaires (Information and Tolerance) to assess quality of life associated with nasal splints after primary cleft surgery, in 41 patients from a Paris cleft center, 21 from a Russian center (Moscow), and 10 from another French center (Nantes), comparing three types of removable splints. No correlation was found between splint type and questionnaire scores in multivariate analysis; Information and Tolerance scores were high, reflecting satisfactory quality of life associated with the device, which proved well tolerated by families and was not associated with specific complications.
- Quantitative study of phonation by aerophonoscopy: Reproducibility study on healthy volunteers.
[Article in French]
The aerophonoscope records oral and nasal airflow during breathing and speech, along with the sounds emitted by the patient; it is recognized as useful for the postoperative follow-up of children with cleft lip and palate, but its reliability had never been quantitatively validated. This study evaluates, in 30 healthy adult volunteers using a test-retest protocol, the inter- and intra-individual reproducibility of aerophonoscopy and its sensitivity to the degree of velopharyngeal sphincter constriction, showing reproducible measurements and good sensitivity in healthy adults. The value of aerophonoscopy in the treatment strategy for cleft lip and palate patients remains to be clarified through further quantitative data.
- Synthetic calcium phosphate ceramics in secondary alveoloplasty.
[Article in French]
Bone substitutes are rarely used in cleft lip and palate reconstruction, cancellous bone harvested from the hip or tibia remaining the reference graft material, though harvesting can cause morbidity. The authors present a secondary alveolar bone grafting technique using synthetic biphasic calcium phosphate ceramics mixed with autologous bone and a platelet-rich plasma gel, in a patient with a complete unilateral cleft lip and palate followed for eight years: complete filling of the bone defect, progressive resorption of the ceramics, and spontaneous eruption of the cuspid, without interfering with maxillary growth, thereby avoiding a second harvesting site.
- Treatment plans for cleft lip and palate in Russia.
[Article in French]
This review describes cleft lip and palate treatment protocols in Russia: the general goals of a treatment protocol, the importance of functional primary cheilorhinoplasty at six months, the specificities of velopalatine surgery in Russia, and the role of orthopedic treatments as applied to the Russian context.
- Nasal Splint Designed Using 3-Dimensional Planning.
Nasal splints are used after primary cleft surgery to maintain the alae nasi and the septum in a satisfactory position during the postoperative period, and also play a major functional role in craniofacial growth by ensuring nasal breathing. Splints exist in innumerable different models but are all formed by two hollow arms connected by a columellar bridge; commercial silicon splints are expensive, and access to high-quality silicon and the 3D technologies needed to build splints locally remains a major problem for many surgery departments. The authors describe an alternative splint designed using 3-dimensional planning.
- Cleft lip and palate and environment in Russia.
[Article in French]
- Cleft lip and palate surgery in Russia.
[Article in French]
This review traces the history and epidemiology of cleft lip and palate surgery in Russia, drawing on the example of Moscow's pediatric maxillofacial surgery center to describe recent and original operative techniques developed there. The authors also discuss the suggested link between environmental pollution and the incidence of cleft lip and palate in Russia.
Other craniofacial malformations
13
- From Fusion to Function: Clinical Insights and Therapeutic Strategies in Syngnathia.
By pooling, through the European Reference Network for craniofacial anomalies, 12 cases of syngnathia (congenital fusion of the upper and lower jaws, with or without temporomandibular joint involvement), this study forms the largest case series reported to date. Most cases were diagnosed at birth, often associated with additional craniofacial anomalies or syndromes, with feeding problems occurring in every case and a tracheal stoma required in 8; the authors advise caution with early release surgery and suggest refinements to the clinical classification system.
- Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition.
This study identifies a somatic PIK3CA gain-of-function mutation in the facial muscles of five children with hemifacial myohyperplasia (HFMH), a rare cause of facial asymmetry confined to the muscles. A mouse model carrying the same mutation in striated muscle showed muscle hypertrophy, mitochondrial dysfunction, and hypoglycemia. Alpelisib, a PI3K inhibitor already used for other PIK3CA-related syndromes, prevented and reduced muscle hypertrophy in mice; treatment of the five patients led to clinical, esthetic, and radiological improvement.
- Nasal cavity shape in unilateral choanal atresia and the role of fetal ventilation in facial growth.
Comparing nasal cavity shape using geometric morphometrics in 32 patients with unilateral choanal atresia (a model of unilateral absence of amniotic fluid flow) versus 96 matched controls, this study tests the hypothesis that fetal breathing movements contribute to nasal cavity growth. The atretic cavity was significantly deformed, with reduced maxillary length and choanal width on the affected side, but growth rates did not differ between groups, suggesting the nasal cavity develops despite abnormal fetal ventilation.
- Dental and maxillofacial features of condylo-mandibular dysplasia: A case series of 21 patients.
This retrospective series of 21 patients describes the clinical and radiographic phenotype of so-called 'camel-hump' condylo-mandibular dysplasia, a specific form of condylar dysostosis: unilateral facial asymmetry of mandibular origin, a short curved condyle, an empty glenoid fossa, and frequent dental inclusions. Functional orthodontic treatment was sufficient for eight patients, while thirteen required surgical mandibular lengthening, with the authors stressing the need to distinguish this entity from craniofacial microsomia.
- Strategy for Bone Conservation in the Two-Stage Correction of Hypertelorism in Craniofrontonasal Dysplasia.
This technical article presents a surgical modification of fronto-orbital advancement for the two-stage correction of hypertelorism associated with craniofrontonasal dysplasia and coronal craniosynostosis. The proposed technique preserves bone in the supero-lateral bandeau during the first procedure, ensuring better-quality bone stock for the second orbital box-shift osteotomy, as part of an overall surgical plan intended to improve safety and final outcome.
- Familial autosomal dominant severe ankyloglossia with tooth abnormalities.
Ankyloglossia is a congenital oral anomaly characterized by a short, hypertrophic lingual frenulum. The authors report a five-generation family including patients with severe ankyloglossia and missing lower central incisors, with two family members also presenting congenital anorectal malformations. Male-to-male transmission favored autosomal dominant inheritance, allowing the X-linked TBX22 gene to be excluded; linkage analysis using short tandem repeat markers near LGR5 also excluded this candidate gene, pointing to genetic heterogeneity in ankyloglossia.
- Orbital volume and shape in Treacher Collins syndrome.
Comparing orbital cephalometry and shape analysis in 18 patients with Treacher Collins syndrome and 52 controls, this study shows that patients' orbits are more asymmetrical, often smaller in volume, with characteristic central and lateral orbital depths that allowed all studied orbits to be correctly classified. These findings confirm the value of combining several morphometric approaches to characterize complex structures such as the orbit and to guide orbito-palpebral reconstruction strategies.
- Giant canine with dentine anomalies in oculo-facio-cardio-dental syndrome.
A typical case of oculo-facio-cardio-dental syndrome (OFCDS), a rare X-linked disease combining cardiac malformations, risk of blindness from congenital glaucoma, and characteristic dental radiculomegaly. The authors provide the first description of the microscopic dental anomalies associated with this syndrome.
- A custom-made nasal splint designed with 3D modelisation.
[Article in French]
- A brain abscess following dental extractions in a patient with hereditary hemorrhagic telangiectasia.
Oral and maxillofacial surgeons must be aware of the potentially life-threatening complications of dental extractions in patients with hereditary haemorrhagic telangiectasia because of their high prevalence of pulmonary arteriovenous fistulas. Despite the lack of evidence-based guidelines, antibiotic cover should be given to patients with HHT who require oral surgery according to the same rules as those used for patients at high risk of bacterial endocarditis.
- Cephalometric study of the velocardiofacial syndrome: Impact of dysmorphosis on phonation.
[Article in French]
A cephalometric study of 27 patients with velocardiofacial syndrome found a short velum and deep cavum, along with malformations of the skull base and upper cervical spine in most patients. The velopharyngeal insufficiency common in this syndrome may thus result from a broader craniospinal growth disorder.
- Extreme oral manifestations in a Marfan-type syndrome.
A 12-year-old girl with typical Marfan syndrome presented with extreme oral manifestations (supernumerary teeth, severe dental crowding, pulpoliths). Despite exhaustive screening, no mutation was found in the FBN1, TGFBR1 or TGFBR2 genes, suggesting another gene is involved in this unusual association.
- Partial facial hemihyperplasia with unusual soft tissue anomalies: long-term follow-up.
A case report documenting the long-term follow-up of partial facial hemihyperplasia with unusual soft-tissue anomalies.
Craniofacial tumors
17
- Protuberant fibro-osseous lesion of the temporal bone: report of four cases and review of the literature.
'Bullough lesions,' or protuberant fibro-osseous lesions (PFOL), are rare temporal bone lesions first described in 1999; with only twelve cases reported, their origin and management remain poorly defined. This article reports the largest published series to date, four patients, showing a female and right-side predominance, a consistent location near the mastoid, diagnosis generally in early adulthood, and no functional symptoms or invasive/malignant features on imaging or histology; the main differential diagnosis, low-grade parosteal osteosarcoma, was ruled out through molecular biology analysis (MDM2 and CDK4 amplification).
- Oral plexiform schwannoma: A case report and relevant immunohistochemical investigation.
Schwannomas are benign peripheral nerve sheath tumors, most often solitary in the head and neck region, with the plexiform variant, characterized by intraneural multinodular growth, being rare. The authors report the case of a 28-year-old woman with a solitary plexiform schwannoma of the great palatine nerve, detailing the immunohistochemical analysis useful for the differential diagnosis with its main morphological mimics — plexiform neurofibroma, granular cell tumor, and malignant peripheral nerve sheath tumors — as well as the value of the SMARCB1/INI1 marker combined with brain MRI to distinguish solitary schwannoma from neurofibromatosis type 2 or schwannomatosis.
- Gnathodiaphyseal dysplasia with a novel R597I mutation of ANO5: Mandibular reconstruction strategies.
This article reports three cases within a single family of gnathodiaphyseal dysplasia, a rare autosomal-dominant disorder caused by ANO5 mutations, combining craniofacial fibro-osseous lesions, tooth loss, and cortical thickening of long bones. The authors describe a novel ANO5 variant (R597I), the microsurgical mandibular reconstructions performed in the three patients, and discuss the specific challenges of this surgery due to diffuse bone anomalies affecting potential bone-graft donor sites.
- Tissular tumor of the floor of the mouth in a child: Differential diagnoses.
- Congenital fibroblastic connective tissue nevi: Unusual and misleading presentations in three infantile cases.
Congenital fibroblastic connective tissue nevi (FCTN) are benign skin conditions characterized by bland spindle cells infiltrating the reticular dermis, a subset of which express CD34 and can be mistaken for dermatofibrosarcoma. The authors present three congenital cases with misleading pseudo-tumoral presentations, compared with published cases, mainly located in the neck, face, or trunk, and provide a diagnostic algorithm for congenital neonatal connective tissue tumors. As the initial presentation and natural history of FCTN fit better with a neoplasm than a hamartoma, the authors suggest replacing the term "nevus" with "tumor," proposing fibroblastic connective tissue tumor (FCTT) as the appropriate designation.
- Three Skulls Dating from the French Revolutionary Years Diagnosed with Tinea Capitis: A Paleopathologic Approach.
The Musée Dupuytren, a Parisian pathology museum founded in 1835, held three skulls dating from the late 18th to early 19th century, with severe craniofacial lesions initially labeled as aggressive forms of tinea capitis. A paleopathologic reassessment found: a 5-year-old child's skull with microcephaly and extensive vault osteolysis, compatible with an aggressive benign lesion, a malignant tumor, or a chronic infection; an adolescent's skull with symmetrical porotic hyperostosis, compatible with undernutrition or various hematologic conditions; and another adolescent's skull with focal temporal osteolysis, compatible with an aggressive benign or low-grade malignant soft-tissue lesion, or chronic infection — shedding light on the 19th-century concept of tinea and on sanitary conditions in Paris after the Revolution.
- Facial infantile aggressive fibromatosis: a frequent localization of an exceptional tumor!
Although fibromatosis is considered a benign tumor, it can cause significant morbidity when it occurs in the head and neck, owing to its infiltrative local growth encroaching on vital structures and its tendency to recur. The authors report the case of a ten-year-old boy with desmoid fibromatosis of the upper lip, treated medically with chemotherapy (methotrexate and vinblastine) to avoid mutilating surgery, with a good outcome. While surgery remains the most common treatment for head and neck fibromatosis, the authors emphasize that alternative therapies should be considered in children given the high recurrence rate and the risk of mutilating operations.
- Long-term follow-up of cemento-osseous dysplasia: a contralateral recurrence before radiotherapy.
[Article in French]
Cemento-osseous dysplasia is a benign fibro-osseous lesion of the jaws whose complications are very rare. The authors report the case of a 71-year-old woman followed for lung adenocarcinoma, in whom pre-radiotherapy assessment revealed a periapical fibro-osseous lesion on tooth 46, sixteen years after a similar lesion on tooth 36 treated by extraction and alveolar curettage. The diagnosis of focal cemento-osseous dysplasia relies on radiological and clinical data; the risk of transition to a florid form remains unknown, and the indication for surgical excision before radiotherapy is discussed.
- Maxillary sinus osteoma associated with a mucocele.
[Article in French]
Maxillary sinus osteomas are rare benign tumors with a poorly documented clinical course, and their craniofacial location may be part of a syndrome. The authors report the case of a 52-year-old woman presenting with chronic maxillary sinusitis and an oral vestibular fistula, whose CT scan suggested a mucocele with reactive bone formation; macroscopic examination found a pedunculated bone tumor next to a mucocele and a cyst probably of dental origin, with pathology confirming a cancellous osteoma and no sign of associated Gardner syndrome. Screening for Gardner syndrome is recommended for any sinus osteoma, given the associated risk of colonic malignancy.
- Neural jaw tumors.
[Article in French]
Neural tumors of the jaw are neurofibroma and schwannoma, and more rarely ganglioneuroma; pterional meningiomas are extremely rare. Schwannoma, or neurinoma, forms along the course of a cranial nerve exclusively from axonal sheath Schwann cells, whereas neurofibroma results from the proliferation of several cell types — its identification requires screening for type I neurofibromatosis. Surgery is the only treatment for facial neural tumors; functional and esthetic sequelae are common, and recurrence and malignant transformation are severe complications of neurofibroma.
- Bronchogenic cyst of the tongue in an adult.
[Article in French]
Choristomas are non-malignant embryonic tumors defined by ectopic tissue different from the organ on which they develop; the bronchogenic cyst, lined with respiratory epithelium, is one such choristoma affecting the upper aerodigestive tract, with the tongue being a rare site. The authors report the case of a 22-year-old man presenting with painful macroglossia, whose imaging suggested an abscessed embryonic tumor and whose surgical excision confirmed a lingual choristoma of the bronchogenic cyst type. Embryonic tumors of the tongue are usually diagnosed in childhood; adult cases are rare, and complete surgical removal remains the only treatment, with rare postoperative complications or relapse — though one reported case of malignant transformation makes systematic radical excision advisable.
- Recurring gnathodiaphyseal dysplasia in two Russian brothers.
Two Russian brothers presented with recurring benign facial bone tumors and progressive long-bone thickening, consistent with gnathodiaphyseal dysplasia, a rare disease linked to the TMEM16E gene. The severe, recurring phenotype in these two patients illustrates the variable expressivity of the condition.
- Hamartomatous and pluritissular tumors.
[Article in French]
Hamartomas are defined by the benign proliferation of cells normally occurring in the affected tissue or organ, with a hyperplastic structure that can greatly differ from normal histology depending on the quantity, arrangement, or maturation state of the tumoral cells. Hamartomas of the maxilla and mandible form a heterogeneous group of diseases that nonetheless share two major therapeutic challenges: surgical treatment of the mass effect and deformations induced by tumoral growth, and mandatory screening for associated extra-facial tumors.
- Jaw tumors of embryonic origin.
[Article in French]
This review describes jaw tumors of embryonic origin — organogenetic vestiges, hamartomas, teratomas, and blastemal tumors — focusing on epignathus, a congenital craniofacial teratoma affecting the maxilla that causes deglutition disorders and severe hydramnios and may lead to therapeutic abortion. Oral teratomas, almost always benign and encapsulated, can affect maxillary growth; treatment is always surgical, either immediate postnatal resection or, in higher-risk cases, an EXIT (ex utero intrapartum treatment) procedure.
- Frontal meningioma en plaque: a rare presentation for a common tumor!
[Article in French]
En plaque meningioma, a carpet-like morphological subtype that infiltrates the dura and can invade the underlying bone, is illustrated here by an exceptional case in terms of location and course: a 41-year-old woman presenting with progressive swelling of the left frontoparietal region, with CT-scan showing thickening of the cranial diploe without cerebral lesion. The resected tumor was histologically confirmed as en plaque meningioma, which recurred seven years later, illustrating the frequent relapse seen in this rare subtype of skull-vault meningioma.
- Familial cherubism: the experience of the Moscow Central Institute for Stomatology and Maxillo-Facial Surgery.
A series of 33 patients (24 children and 9 of their parents) with cherubism, a rare genetic disease causing bilateral jaw swelling, followed at the Moscow Central Institute for Stomatology. The authors describe the variability of clinical presentations and report the first case of cherubism associated with gingival hypertrophy without neurological signs.
- Multiple target-shaped periapical lesions.
[Article in French]
Acquired craniofacial anomalies
7
- Total lower lip and chin replantation following a trampoline accident: Rescue surgery with intensive leech therapy.
This case report describes a microsurgical salvage attempt after a child's lower lip and chin were amputated in a trampoline accident. Despite arterial anastomosis and leech therapy to compensate for the lack of venous drainage, 75% of the lip and 25% of the chin were ultimately lost, requiring secondary reconstruction with local flaps and leaving residual microstomia. The authors emphasize the importance of microsurgical expertise and access to leech therapy in this rare type of pediatric injury.
- Management of Gorham Stout disease with skull-base defects: Case series of six children and literature review.
This series of 6 children with Gorham-Stout disease, a rare lymphatic disorder causing progressive bone destruction, describes two clinical patterns depending on the location of skull-base lesions: naso-temporal forms, marked by cerebrospinal fluid leaks and recurrent meningitis, and vertebro-temporal forms, without leaks but with a risk of fatal spinal cord compression. Interferon appeared to be the most effective medical treatment, with surgery remaining necessary but without guaranteed lasting effect.
- Craniofacial bone atrophy in Parry Romberg syndrome demonstrated using a Bayesian hierarchical model.
Comparing 10 patients with Parry-Romberg syndrome (progressive hemifacial atrophy) to 12 controls using 3D imaging and Bayesian statistics, this study is the first to quantitatively demonstrate significant bone atrophy alongside the soft-tissue atrophy usually described in this condition. The results suggest that bone atrophy is most likely a primary process rather than simply secondary to soft-tissue retraction.
- Temporomandibular joint anomalies in pediatric craniofacial Gorham-Stout disease.
In 4 children followed for a craniofacial form of Gorham-Stout disease, this study reports for the first time consistent radiological involvement of the temporomandibular joint (osteolytic lacunae of the condylar head, condylar flattening, thinning of the glenoid cavity), although only one patient had actual functional impairment. The authors recommend systematically assessing the structure and function of this joint in this rare disease.
- Bifid mandibular condyle: position of the supernumerary condyle.
[Article in French]
Bifid condyles are uncommon and include post-traumatic aberrant reorganization of the temporomandibular joint (TMJ) and congenital forms. The authors report two cases of unilateral bifid condyles causing TMJ dysfunction: the first, probably congenital, oriented frontally; the second, oriented sagittally, probably post-traumatic. Both patients were managed with functional treatment. Bifid condyle is asymptomatic in most cases, its most frequent clinical consequence being TMJ pain, and surgery is rarely indicated; the orientation of the supernumerary condylar head may help with the etiological diagnosis, which is often difficult to establish.
- Silent sinus syndrome associated with intrasinusal ossification.
[Article in French]
Silent sinus syndrome is a rare cause of diplopia and facial asymmetry, commonly attributed to sinus atelectasis secondary to ostiomeatal obstruction; surgical dissection of the maxillary sinus mucosal lining is known to cause auto-obliteration by bone formation. The authors report the case of a 45-year-old woman referred for vertical diplopia with enophthalmos and slight depression of the left cheekbone, six months after antrostomy for chronic obstructive maxillary sinusitis: CT scan revealed a major collapse of the left maxillary sinus with expansion of the orbital volume, and de novo maxillary sinus ossification, consisting of normal lamellar bone, developed over two years of follow-up. The left orbital floor was rebuilt and diplopia progressively resolved; this association between silent sinus syndrome and intraluminal osteogenesis had never been reported before, the former likely due to peroperative dissection of the maxillary sinus mucosal lining and the latter due to meatal obstruction secondary to inadequate antrostomy.
- Orthodontic consequences of ritual dental mutilations in northern Tchad.
This case report describes the orthodontic consequences of ritual enucleation of the deciduous canines, a traditional practice in the Tibesti region of northern Chad, in an 11-year-old boy presenting with pain in the first right mandibular premolar. The absence of the maxillary canines and malformation of the remaining mandibular canines caused occlusal overload on the neighboring premolars, illustrating the long-term impact of this ritual dental mutilation on the development of occlusion.
History of craniofacial surgery
6
- Orbital injuries in wartime: Historical study from Paul Tessier's work in Iran.
Paul Tessier, a leading French oculoplastic surgeon, took part in several surgical missions in Iran to manage victims of the Iraq-Iran conflict in the late 1980s and early 1990s. This study covers the records of 322 patients operated on by Tessier's team in Iran between 1990 and 1993 (mean age at trauma: 20.65 ± 7.04 years): the bones of the upper third of the face and the orbital contents were affected in 124 patients (38.5%), with 60 orbital injuries, 95 uni- or bilateral enucleations, and 39 eyelid injuries. A representative case of orbital reconstruction using antero-internal and posterior iliac bone grafts illustrates Tessier's techniques, highlighting the challenges of orbital reconstruction in wartime.
- A Case of Complex Facial Reconstruction Illuminates Paul Tessier's Surgical State of Mind.
Successful head and neck reconstructions today combine morphological and functional goals thanks to biomaterials, computer-assisted surgery, and free tissue transfer. In the 1970s, when Paul Tessier, one of the founders of modern plastic surgery, was at the peak of his career, complex reconstructions had little technology to rely on. The authors report a case of facial reconstruction after gunshot trauma performed by Tessier based on his "craniofacial autarchy" principle — using solely local flaps and grafts harvested in the head and neck area — involving 30 procedures on the mandible, maxilla, chin, lips, and nose. Drawing on the archives of the Association Française des Chirurgiens de la Face (Amiens), the authors detail Tessier's approach to surgical planning and his overall conception of treatment plans in reconstructive surgery.
- Self-experimentation or how Paul Tessier became Homo masticans.
- Maxillofacial surgery in wartime Middle-East: Paul Tessier's missions to Iran.
The Iraq-Iran war (1980-88) resulted in numerous maxillofacial injuries: more than 400,000 people were wounded and required specialist care. Paul Tessier, a leading French plastic surgeon and pioneering craniofacial surgeon, was involved in several missions to Iran and operated on a vast cohort of patients with complex war trauma sequelae. This study covers 322 files of war-injured patients operated on by Paul Tessier in Iran between 1990 and 1993, with shell fragments (50%) and bullets (8.4%) the most common trauma mechanisms; Tessier harvested 175 bone grafts, managed 60 orbital fractures, and performed 95 uni- or bilateral enucleations. Tessier's files provide first-hand information on the injury patterns of a regional 1980s war and on the reconstruction challenges faced by a country during its post-war recovery.
- Paul Tessier facial reconstruction in 1970 Iran, a series of post-noma defects.
Paul Tessier was a pioneering plastic surgeon who founded craniofacial surgery and had an international influence on reconstructive surgery. This study reviews his techniques for reconstructing post-noma defects in 23 patients operated on in Iran between 1974 and 1978 (ten simple lip and cheek defects, nine also with nose defects, four extensive facial defects): Abbe flaps for the lip (15 cases), nasofrontal flaps for the nose (10 cases), rotation or frontotemporal flaps for the outer cheek, and a Barron-Tessier myocutaneous flap for the inner cheek (10 cases), with partial flap necrosis in only five cases — a high success rate at a time when free flaps did not yet exist.
- Lower jaw reconstruction and dental rehabilitation after war injuries: The experience of Paul Tessier in Iran in the late 1980s.
The Iraq-Iran war resulted in more than 400,000 people requiring prolonged medical care. An international team of prominent reconstructive surgeons led by Paul Tessier, the founder of craniofacial surgery, was invited to Iran during the war to provide up-to-date oral and maxillofacial rehabilitation to patients with severe trauma defects in the lower third of the face. This study covers 43 patients operated on by Tessier's team in the 1980s (age, nature of trauma, previous procedures, implants placed, associated procedures): a standardized protocol combining soft-tissue rehabilitation using local flaps, parietal or iliac bone grafts, and implant placement six months later, illustrating Tessier's insistence on maintaining high standards of care in difficult circumstances.
Books and chapters
- Management of Apert Syndrome
Details
A collaborative book on the management of Apert syndrome, edited by John G. Meara and Mark Proctor (Harvard University) and Nivaldo Alonso (USP — Universidade de São Paulo), with a significant contribution from the craniofacial team at Necker - Enfants malades Hospital (AP-HP): Giovanna Paternoster, Eric Arnaud, Marielle Pillon, Thomas Bondi, Romain Luscan, Vincent Couloigner, and Romain Touzé, in connection with the Filière Santé Maladies Rares TETECOU, CRMR MAFACE, ERN CRANIO, Institut Imagine, and Université Paris Cité.
Chapters featuring the lab:
- Diagnosis and Imaging — Khalid Al-Dasuqi, Quentin Hennocq, Roman H. Khonsari, Syril James, Caroline D. Robson, Joanne M. Rispoli.
- Surgery on the Eyes and Eyelids — Linda R. Dagi, Yoon-Hee Chang, Eric Arnaud, Roman H. Khonsari, Isabella de Oliveira Lima Parizotto Paula, Raul Gonçalves de Paula, Matthieu Robert, Romain Touzé.
- Orthodontic Care — Marielle Pillon, Brigitte Vi-Fane, Thomas Bondi, Roman H. Khonsari, Eric Arnaud, Catherine Tomat.
- Neurosurgical Considerations — Giovanna Paternoster, Tatiana Protzenko, Roman H. Khonsari, Syril James, Eric Arnaud.
- Monobloc Advancement with Internal Distraction — Eric Arnaud, Roman H. Khonsari, Giovanna Paternoster.
- Le Fort III Distraction with or without Facial Bipartition — Roman H. Khonsari, Elle Vandervord, Giovanna Paternoster, Samer E. Haber, Eric Arnaud.
- Virtual Surgical Planning for Orthognathic Surgery — Renato Yassutaka Faria Yaedú, Isabela Toledo Teixeira da Silveira, Caroline de Paula Oliveira Gringo, Mariela Peralta-Mamani, Roman H. Khonsari.
- L'impression 3D en chirurgie orthognathique : principes, réglementation et étude de cas
Details
Based on a medical thesis defended at Université Paris Cité, this book details the principles of 3D printing and its regulatory framework, its role in orthognathic surgery, and the concrete implementation of a digital workflow and 3D production chain at CHU Nantes.
- Medical Additive Manufacturing: Concepts and Fundamentals
Details
Chapter featuring the lab:
- Digital fabrication in craniofacial surgery — Roman Hossein Khonsari. Traces the history of craniofacial surgeons' interactions with in-house manufacturing of medical devices, from historical prostheses to today's 3D printing.
- Emergency Medical 3D Printing: A Case Study During the COVID-19 Pandemic
Details
Tells the story of the emergency 3D-printing platform set up during the first wave of COVID-19 to address medical-device shortages, and draws lessons from it — the origin of what would become PRIM3D.
- Frontofacial Monobloc Advancement with Internal Distraction — Tactics and Strategy in Faciocraniosynostosis
Details
A technical book on fronto-facial monobloc advancement by internal distraction in the management of faciocraniosynostosis, co-written with Giovanna Paternoster, pediatric neurosurgeon at Necker - Enfants malades Hospital and head of the CRMR CRANIOST.
- Le crâne toulousain — Histoire de la déformation intentionnelle des nouveau-nés en France
Details
Explores intentional infant skull-deformation practices found worldwide since prehistory, focusing on the Toulouse region, where documented cases run into the early 20th century — origins, motivations, and medical consequences, examined through a maxillofacial surgeon's eye.
- L'ECN en QCM: Chirurgie maxillo-faciale
Details
An exam-prep volume for the French ECN medical exam, covering maxillofacial surgery: single- and multiple-answer MCQs organized by curriculum item, short-answer questions, clinical cases, and detailed corrections, including dental development and disorders, salivary gland pathology, cutaneous-mucosal infections, and tumors of the oral cavity, facial skeleton, nasopharynx, and upper aerodigestive tract.