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Objectives: One of the key aspects of three-dimensional (3D) craniofacial cephalometry is the measurement of posterior cranial base angle as this area is deeply involved in craniofacial development. The purpose of our retrospective study was to define the best reproducible 3D posterior cranial base angles among five 3D angles transposed from 2D cephalometry (Cousin, BL1 of Ross and Ravosa, Bjork, Delaire, CBA4 of Liberman) and seven 3D angles based on physical anthropology studies and on new concepts (R1 to R7). The null hypothesis was that all 3D posterior cranial base angles were equally reproducible. Material and methods: We used a preoperative low-dose computed tomography (CT) data from 20 adult patients undergoing orthognathic surgery after approval by local ethical committee. Two independent observers performed two series of 23 3D landmark identifications on 3D CT surface rendering of each patient using Maxilim software. Then, the same observers performed twice 3D cephalometric analyses (23 landmarks, 4 midpoints, 19 planes) that provided the automatic measurement of 12 posterior cranial base angles. Results: Inter-observer correlation coefficient varied from 0.545 (Cousin) to 0.695 (CBA4 of Liberman) and from −0.177 (R2) to 0.827 (R4). Conclusions: The null hypothesis was rejected. The most reproducible angle was 3D angle R4 based on 'basion,' 'superior optic' (right, left), and 'crista galli inferior' landmarks. Clinical relevance: R4 angle might be used as reference 3D posterior cranial base angle in further clinical studies involving 3D cephalometry as a diagnostic tool for orthodontics and for orthognathic surgery. [ABSTRACT FROM AUTHOR]

Craniofacial development involves processes leading to the positioning and early growth of the frontal ossification centers. Growth then occurs, mostly secondary to the activity of the sutures, with major interactions with the functional environment, mostly consisting in the growing brain, based on mechanosensation and mechanotransduction mechanisms. Here, we review these processes and assess their relevance in the understanding of craniofacial malformations., (Copyright © 2024 Elsevier Masson SAS. All rights reserved.)

Artificial skull deformations were performed in all cultures since Prehistoric times using external devices, to permanently modify the shape of the head of newborns. Two types of deformations are reported: (1) antero-posterior deformations ("flat heads") and (2) circumferential deformations ("long heads"). Deformation devices exert mechanical forces on the forehead and the occiput: forehead shape is thus a major source of information for diagnosis, classification and on the culture significance of artificial skull deformations. France was the major European country for artificial skull deformations, and Toulouse was the epicenter of this practice. Numerous dry skulls and exceptional historical data are available to explore the origins, the mechanisms, the motivations, and the consequences of "Toulouse" artificial skull deformations., (Copyright © 2024. Published by Elsevier Masson SAS.)

The forehead is the cranial part of the forehead, and represents an important component of facial esthetics. The deformations linked to craniosynostoses are characterized by modifications in height, width, and angulation. Their surgical correction during childhood is based on well-established techniques of remodeling using resorbable osteosynthesis. Today, distraction and springs allow less invasive procedures with good outcomes. Sequellae mainly correspond to hypotrophies of the temporal region, corrected with fat grafting. The presence of a mutation increases the risk of reoperation in the first six years of life., (Copyright © 2024 The Authors. Published by Elsevier Masson SAS.. All rights reserved.)

Dysfunction of primary cilia leads to genetic disorder, ciliopathies, which shows various malformations in many vital organs such as brain. Multiple tongue deformities including cleft, hamartoma, and ankyloglossia are also seen in ciliopathies, which yield difficulties in fundamental functions such as mastication and vocalization. Here, we found these tongue anomalies in mice with mutation of ciliary protein. Abnormal cranial neural crest-derived cells (CNCC) failed to evoke Hh signal for differentiation of mesoderm-derived cells into myoblasts, which resulted in abnormal differentiation of mesoderm-derived cells into adipocytes. The ectopic adipose subsequently arrested tongue swelling formation. Ankyloglossia was caused by aberrant cell migration due to lack of non-canonical Wnt signaling. In addition to ciliopathies, these tongue anomalies are often observed as non-familial condition in human. We found that these tongue deformities could be reproduced in wild-type mice by simple mechanical manipulations to disturb cellular processes which were disrupted in mutant mice. Our results provide hints for possible future treatment in ciliopathies., Competing Interests: MK, KK, FS, TK, JN, MK, TN, VU, YI, FM, AK, AF, TN, YK, SM, JT, YK, TM, SG, RK, PC, PS, MC, BF, AO No competing interests declared, (© 2024, Kawasaki et al.)

Apert (AS), Crouzon (CS), Muenke (MS), Pfeiffer (PS), and Saethre Chotzen (SCS) are among the most frequently diagnosed syndromic craniosynostoses. The aims of this study were (1) to train an innovative model using artificial intelligence (AI)-based methods on two-dimensional facial frontal, lateral, and external ear photographs to assist diagnosis for syndromic craniosynostoses vs controls, and (2) to screen for genotype/phenotype correlations in AS, CS, and PS. We included retrospectively and prospectively, from 1979 to 2023, all frontal and lateral pictures of patients genetically diagnosed with AS, CS, MS, PS and SCS syndromes. After a deep learning-based preprocessing, we extracted geometric and textural features and used XGboost (eXtreme Gradient Boosting) to classify patients. The model was tested on an independent international validation set of genetically confirmed patients and non-syndromic controls. Between 1979 and 2023, we included 2228 frontal and lateral facial photographs corresponding to 541 patients. In all, 70.2% [0.593-0.797] (p < 0.001) of patients in the validation set were correctly diagnosed. Genotypes linked to a splice donor site of FGFR2 in Crouzon-Pfeiffer syndrome (CPS) caused a milder phenotype in CPS. Here we report a new method for the automatic detection of syndromic craniosynostoses using AI., Competing Interests: Declaration of competing interest The authors have no conflicts of interest relevant to this article to disclose., (Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Fronto-facial monobloc advancement with internal distraction (FFMBA) is a central procedure in the management of faciocraniosynostoses. In techniques with internal distraction, two sets of devices are generally positioned: bilateral fronto-orbital and temporo-zygomatic distractors, using a temporal tongue and groove osteotomy design. It is believed that distractors must be positioned as parallel as possible in the horizontal and sagittal planes to avoid mechanical conflicts between the sliding bone fragments of the tongue and groove during distraction, and thus optimize the advancement amplitude. Several approaches involving surgical planification and guides for distractor positioning have thus been proposed to monitor distractor placement. To explore the need for surgical planification in distractor placement, the parallelism of the position of the 4 distractors was assessed in 19 FFMBA procedures and we correlated a set of 10 distractor angles with the degree of advancement. We report that the horizontal cut of the tongue and groove can be used as a landmark for the positioning of the lower, temporo-zygomatic, distractor in fronto-facial monobloc advancement. Other parameters (relative position of the two homolateral and the two contralateral distractors and the orientations of the vertical and horizontal cuts of the tongue and groove) do not interfere with distraction, other things being equal. Our results indicate that distractor orientation is not a critical issue in fronto-facial monobloc advancement when devices are positioned as parallel as possible based on visual monitoring., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Author(s). Published by Elsevier Masson SAS.. All rights reserved.)

Background: Fronto-facial monobloc advancement with internal distraction (FFMBA) is a central procedure in the management of FGFR-related craniosynostoses. Children undergoing FFMBA may present with resorption of the frontal bony flap in the months or years following surgery. Here, we aimed at identifying the clinical factors associated with resorption and its extent in patients with Crouzon and Pfeiffer syndromes., Methods: We conducted a retrospective monocentric study of children with Crouzon and Pfeiffer syndromes who underwent FFMBA between May 2008 and October 2021, with available CT-scan data (1) early after surgery before the initiation of distraction, (2) at the end of distraction, (3) 2 years after surgery and optionally (4) 5 years or more after surgery. The following parameters were included: sex, age, mutation, number of previous craniofacial procedures, presence of tracheostomy or ventriculo-peritoneal (VP) shunt, FFMBA indication (raised ICP, OSAS, exorbitism, morphology), per-operative parameters (use of osteosynthesis, per-operative advancement, duration of surgery) and post-operative parameters (CSF leak, infection, distraction initiation, total advancement, persistence of a retro-frontal dead space)., Results: 63 patients were included, with a mean age of 2.91 years (SD=1.61) at the time of surgery, male/female sex ratio of 1.1, and a majority of Crouzon syndrome (84%). Two years after surgery (average: 622 days, SD=286.7), mean frontal bone flap resorption was 4.83 cm2 ([0-27.3], SD=5.35). Factors associated with more severe frontal bone resorption were the intraoperative use of absorbable sutures vs steel wires (9.83 vs. 3.99, p=0.04) and the persistence of a retro-frontal dead space at 2 years after surgery (13.12 vs. 3.63, p<0.001)., Conclusion: The use of absorbable sutures for frontal bone fixation in FFMBA and the persistence of a retro-frontal dead space two years after surgery are risk factors for bone resorption. This report indicates that rigid osteosynthesis should be favored, and both per-operative and early post-operative distractor activation should be performed with care and follow-up of brain expansion., Competing Interests: Disclosure: The authors have no conflict of interest relevant to this article to disclose., (Copyright © 2024 by the American Society of Plastic Surgeons.)

Objective: Here we trained an automatic phenotype assessment tool to recognize syndromic ears in two syndromes in fetuses-=CHARGE and Mandibulo-Facial Dysostosis Guion Almeida type (MFDGA)-versus controls., Method: We trained an automatic model on all profile pictures of children diagnosed with genetically confirmed MFDGA and CHARGE syndromes, and a cohort of control patients, collected from 1981 to 2023 in Necker Hospital (Paris) with a visible external ear. The model consisted in extracting landmarks from photographs of external ears, in applying geometric morphometry methods, and in a classification step using machine learning. The approach was then tested on photographs of two groups of fetuses: controls and fetuses with CHARGE and MFDGA syndromes., Results: The training set contained a total of 1489 ear photographs from 526 children. The validation set contained a total of 51 ear photographs from 51 fetuses. The overall accuracy was 72.6% (58.3%-84.1%, p < 0.001), and 76.4%, 74.9%, and 86.2% respectively for CHARGE, control and MFDGA fetuses. The area under the curves were 86.8%, 87.5%, and 90.3% respectively for CHARGE, controls, and MFDGA fetuses., Conclusion: We report the first automatic fetal ear phenotyping model, with satisfactory classification performances. Further validations are required before using this approach as a diagnostic tool., (© 2024 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.)

Objective: Distraction osteogenesis is one of the treatment options in patients with severe maxillomandibular abnormalities to treat morphological and respiratory problems (obstructive sleep apnea syndrome). The study aimed to evaluate the effect of Le Fort I, II and III distraction osteogenesis (DO) on upper airway dimensions and respiratory function., Methods: Electronic search was performed in PubMed, Scopus, Embase, Google Scholar and Cochrane databases. Studies that only involved two dimensional analyses were excluded. Besides, studies that performed DO in conjunction with orthognathic surgery were not considered. NIH quality assessment tool was used to evaluate the risk of bias. Meta-analyses were performed to assess sleep apnea indices and the mean differences in the airway dimensions before and after DO. Gradings of Recommendations, Assessment, Development and Evaluation were used to analyze the evidence level., Results: Among the 114 studies that went under full-text analyses, 11 articles met the inclusion criteria. Results of the quantitative analyses showed that maxillary Le Fort III DO significantly increased the amounts of oropharyngeal, pharyngeal and upper airway volumes. However, apnea-hypopnea index (AHI) showed a non-significant improvement after this procedure. Besides, the dimensions of the airways increased with Le Fort I and II DO, according to a qualitative analysis. Considering the design of the included studies, our results had a low level of evidence., Conclusion: Maxillary Le Fort DO does not significantly impact AHI, while it significantly increases the airway dimensions. Meanwhile, multicentric studies with standardized evaluation are still required to confirm the effects of maxillary Le Fort DO on airway obstruction., Competing Interests: Declaration of Competing Interest Authors declare no conflicts of interest., (Copyright © 2023. Published by Elsevier Masson SAS.)

The craniocervical junction (CCJ) forms the bridge between the skull and the spine, a highly mobile group of joints that allows the mobility of the head in every direction. The CCJ plays a major role in protecting the inferior brainstem (bulb) and spinal cord, therefore also requiring some stability. Children are subjected to multiple constitutive or acquired diseases involving the CCJ: primary bone diseases such as in FGFR-related craniosynostoses or acquired conditions such as congenital torticollis, cervical spine luxation, and neurological disorders. To design efficient treatment plans, it is crucial to understand the relationship between abnormalities of the craniofacial region and abnormalities of the CCJ. This can be approached by the study of control and abnormal growth patterns. Here we report a model of normal skull base growth by compiling a collection of geometric models in control children. Focused analyses highlighted specific developmental patterns for each CCJ bone, emphasizing rapid growth during infancy, followed by varying rates of growth and maturation during childhood and adolescence until reaching stability by 18 years of age. The focus was on the closure patterns of synchondroses and sutures in the occipital bone, revealing distinct closure trajectories for the anterior intra-occipital synchondroses and the occipitomastoid suture. The findings, although based on a limited dataset, showcased specific age-related changes in width and closure percentages, providing valuable insights into growth dynamics within the first 2 years of life. Integration analyses revealed intricate relationships between skull and neck structures, emphasizing coordinated growth at different stages. Specific bone covariation patterns, as found between the first and second cervical vertebrae (C1 and C2), indicated synchronized morphological changes. Our results provide initial data for designing inclusive CCJ geometric models to predict normal and abnormal growth dynamics., (© 2024 The Author(s). Journal of Anatomy published by John Wiley & Sons Ltd on behalf of Anatomical Society.)

X-ray Computed Tomography (CT) images are widely used in various fields of natural, physical, and biological sciences. 3D reconstruction of the images involves segmentation of the structures of interest. Manual segmentation has been widely used in the field of biological sciences for complex structures composed of several sub-parts and can be a time-consuming process. Many tools have been developed to automate the segmentation process, all with various limitations and advantages, however, multipart segmentation remains a largely manual process. The aim of this study was to develop an open-access and user-friendly tool for the automatic segmentation of calcified tissues, specifically focusing on craniofacial bones. Here we describe BounTI, a novel segmentation algorithm which preserves boundaries between separate segments through iterative thresholding. This study outlines the working principles behind this algorithm, investigates the effect of several input parameters on its outcome, and then tests its versatility on CT images of the craniofacial system from different species (e.g. a snake, a lizard, an amphibian, a mouse and a human skull) with various scan qualities. The case studies demonstrate that this algorithm can be effectively used to segment the craniofacial system of a range of species automatically. High-resolution microCT images resulted in more accurate boundary-preserved segmentation, nonetheless significantly lower-quality clinical images could still be segmented using the proposed algorithm. Methods for manual intervention are included in this tool when the scan quality is insufficient to achieve the desired segmentation results. While the focus here was on the craniofacial system, BounTI can be used to automatically segment any hard tissue. The tool presented here is available as an Avizo/Amira add-on, a stand-alone Windows executable, and a Python library. We believe this accessible and user-friendly segmentation tool can benefit the wider anatomical community., (© 2024 The Authors. Journal of Anatomy published by John Wiley & Sons Ltd on behalf of Anatomical Society.)

Purpose: Craniofacial osteotomies involving pterygomaxillary disjunction are common procedures in maxillofacial surgery. Surgeons still rely on their proprioception to determine when to stop impacting the osteotome, which is important to avoid complications such as dental damage and bleeding. Our group has developed a technique consisting in using an instrumented hammer that can provide information on the mechanical properties of the tissue located around the osteotome tip. The aim of this study is to determine whether a mallet instrumented with a force sensor can be used to predict the crossing of the osteotome through the pterygoid plates., Methods: 31 osteotomies were carried out in 16 lamb skulls. For each impact, the force signal obtained was analysed using a dedicated signal processing technique. A prediction algorithm based on an SVM classifier and a cost matrix was applied to the database., Results: We showed that the device could always detect the crossing of the osteotome, sometimes before its occurrence. The prediction accuracy of the device was 94.7%. The method seemed to be sensitive to the thickness of the plate and to crack apparition and propagation., Conclusion: These results pave the way for the development of a per-operative decision support system in maxillofacial surgery., (© 2024. The Author(s).)

Objective: Fronto-facial monobloc advancement with internal distraction (FFMBA) is a key procedure in the management of syndromic craniosynostoses. FFMBA involves circumferential dissection and linear enlargement of the orbit, potentially leading to mechanical stress on the optic nerve (ON). Several reports of transient vision loss during the distraction process led us to investigate ON shape modifications during facial advancement, with the aim to potentially refine current clinical guidelines on postoperative management and the distraction schedule., Methods: Twenty-six patients with Crouzon syndrome were included in this study. ONs were segmented on pre- and postoperative CT scans. Distraction amplitudes, linear and curved lengths, and cross-section diameters of the ON were assessed along the main axis of the nerve. A two-level hierarchical multivariate linear model was used to screen for factors associated with ON morphology., Results: The mean age at FFMBA was 4.4 ± 3.8 years. Two patients presented with transient impaired vision during distraction. The final mean fronto-orbital and temporo-zygomatic distraction amplitudes were 18 ± 4 mm and 18 ± 6 mm, respectively. At the end of distraction, ONs were elongated (+1.8 mm for curved lengths, p = 0.013), and their mean cross-section was reduced (-1.9 mm2, p < 0.001) in the proximal intraorbital portion (first 15 mm). In the 2 patients with visual symptoms, functional impairment was associated with ON area reduction (OR 0.487, p < 0.001) and increased temporo-zygomatic distraction amplitude (OR 2.240, p < 0.001)., Conclusions: ON was elongated during FFMBA, with proximal diameter reduction. Transient visual impairment with normal fundus examination during distraction seemed to have a morphological basis, based on 2 cases. These results suggest the importance of vision monitoring associated with fundus examination during distraction, and advocate for early extubation after FFMBA to allow clinical follow-up.

Our fundamental understanding of the physico-mechanical forces that drive the size and shape changes of the cranium during ontogeny are limited. Biomechanical models based on finite element method present a huge opportunity to address this critical gap in our knowledge. Here, we describe a validated computational framework to predict normal craniofacial growth. Our results demonstrated that this approach is capable of predicting the growth of calvaria, face, and skull base. We highlighted the crucial role of skull base in antero-posterior growth of the face and also demonstrated the contribution of the maxillary expansion to the dorsoventral growth of the face and its interplay with the orbits. These findings highlight the importance of physical interactions of different components of the craniofacial system. The computational framework described here serves as a powerful tool to study fundamental questions in developmental biology and to advance treatment of conditions affecting the craniofacial system such as craniosynostosis., Competing Interests: The authors declare no conflicts of interest., (© 2024 The Authors.)

Genetic diseases with craniofacial malformations can be associated with anomalies of the craniocervical joint (CCJ). The functions of the CCJ are thus impaired, as mobility may be either limited by abnormal bone fusion causing headaches, or exaggerated in the case of hypermobility, which may cause irreparable damage to the spinal cord. Restoring the balance between mobility and stability requires surgical correction in children. The anatomy and biomechanics of the CCJ are quite unique, yet have been overlooked in the past decades. Pediatric evidence is so scarce, that investigating the adult CCJ is our best shot to disentangle the form-function relationships of this anatomical region. The motivation of the present study was to understand the morphological and functional basis of motion in the CCJ, in the hope to find morphological features accessible from medical imaging able to predict mobility. To do so, we have quantified the in-vitro kinematics of the CCJ in nine cadaveric asymptomatic adults, and estimated a wide range of mobility variables covering the complexity of spinal motion. We compared these variables with the shape of the occipital, the atlas and the axis, obtained using a dense geometric morphometric approach. Morphological joint congruence was also quantified. Our results suggest a strong relationship between bone shape and motion, with the overall geometry predicting best the primary movements, and the joint facets predicting best the secondary movements. We propose a functional hypothesis stating that the musculoligamental system determines movements of great amplitude, while the shape and congruence of joint facets determine the secondary and coupled movements, especially by varying the geometry of bone stops and the way ligaments are tensioned. We believe this work will provide valuable insights in understanding the biomechanics of the CCJ. Furthermore, it should help surgeons treating CCJ anomalies by enabling them to translate objectives of functional and clinical outcome into clear objectives of morphological outcome., (© 2024 The Author(s). Journal of Morphology published by Wiley Periodicals LLC.)

The morphology and biomechanics of infant crania undergo significant changes between the pre- and post-weaning phases due to increasing loading of the masticatory system. The aims of this study were to characterize the changes in muscle forces, bite forces and the pattern of mechanical strain and stress arising from the aforementioned forces across crania in the first 48 months of life using imaging and finite element methods. A total of 51 head computed tomography scans of normal individuals were collected and analysed from a larger database of 217 individuals. The estimated mean muscle forces of temporalis, masseter and medial pterygoid increase from 30.9 to 87.0 N, 25.6 to 69.6 N and 23.1 to 58.9 N, respectively (0-48 months). Maximum bite force increases from 90.5 to 184.2 N (3-48 months). There is a change in the pattern of strain and stress from the calvaria to the face during postnatal development. Overall, this study highlights the changes in the mechanics of the craniofacial system during normal development. It further raises questions as to how and what level of changes in the mechanical forces during the development can alter the morphology of the craniofacial system.

Background: Trigonocephaly occurs due to the premature fusion of the metopic suture, leading to a triangular forehead and hypotelorism. This condition often requires surgical correction for morphological and functional indications. Metopic ridges also originate from premature metopic closure but are only associated with mid-frontal bulging; their surgical correction is rarely required. Differential diagnosis between these two conditions can be challenging, especially in minor trigonocephaly., Methods: Two hundred seven scans of patients with trigonocephaly (90), metopic rigdes (27), and controls (90) were collected. Geometric morphometrics were used to quantify skull and orbital morphology as well as the interfrontal angle and the cephalic index. An innovative method was developed to automatically compute the frontal curvature along the metopic suture. Different machine-learning algorithms were tested to assess the predictive power of morphological data in terms of classification., Results: We showed that control patients, trigonocephaly and metopic rigdes have distinctive skull and orbital shapes. The 3D frontal curvature enabled a clear discrimination between groups (sensitivity and specificity > 92%). Furthermore, we reached an accuracy of 100% in group discrimination when combining 6 univariate measures., Conclusion: Two diagnostic tools were proposed and demonstrated to be successful in assisting differential diagnosis for patients with trigonocephaly or metopic ridges. Further clinical assessments are required to validate the practical clinical relevance of these tools., (© 2024. The Author(s).)

Children with congenital disorders are unfortunate collateral victims of wars and natural disasters. Improved diagnosis could help organize targeted medical support campaigns. Patient identification is a key issue in the management of life-threatening conditions in extreme situations, such as in oncology or for diabetes, and can be challenging when diagnosis requires biological or radiological investigations. Dysmorphology is a central element of diagnosis for craniofacial malformations, with high sensibility and specificity. Massive amounts of public data, including facial pictures circulate daily on news channels and social media, offering unique possibilities for automatic diagnosis based on facial recognition. Furthermore, AI-based algorithms assessing facial features are currently being developed to decrease diagnostic delays. Here, as a case study, we used a facial recognition algorithm trained on a large photographic database to assess an online picture of a family of refugees. Our aim was to evaluate the relevance of using an academic tool on a journalistic picture and discuss its potential application to large-scale screening in humanitarian perspectives. This group picture featured one child with signs of Apert syndrome, a rare condition with risks of severe complications in cases of delayed management. We report the successful automatic screening of Apert syndrome on this low-resolution picture, suggesting that AI-based facial recognition could be used on public data in crisis conditions to localize at-risk patients., Competing Interests: The authors have no financial interest to declare in relation to the content of this article., (Copyright © 2024 The Authors. Published by Wolters Kluwer Health, Inc. on behalf of The American Society of Plastic Surgeons.)

Background: The mechanisms determining the laterality and the rotation direction of hair whorls are unknown. Here we report observations on twins investigating the genetic bases of whorl pattern formation. Knowing that vortex phenomena may depend on geographic effects, we also provide comparative data on whorls from children born in the Northern hemisphere (France) versus children born in the Southern hemisphere (Chile)., Material and Methods: We retrospectively included children from three populations: (1) Northern hemisphere general population, (2) Southern hemisphere general population, and (3) same-sex Northern hemisphere twins. We recorded whorl rotation direction (clockwise, counterclockwise), whorl position (left, right, central) and twinning type. Univariate logistic models were used to screen for associations between rotation direction and whorl position. For twins, the variable of interest was binary, i.e. same rotation direction (reference class) or opposite directions for each twin pair. For controls, all single combinations were included as virtual twins, and compared to real twins. Odds ratios (OR) were compared for both hemispheres, for real twins and virtual (control) twins., Results: Seventy-four (37 pairs) twins and 50 children from the general population of each hemisphere were included. The OR for opposite rotation directions between two twins was ≠1 (p = 0.017), meaning that whorls rotated preferentially in the same direction in twins. ORs were <1 for Northern and Southern hemispheres, meaning that whorls rotated preferentially in the same direction in simulated twins. OR for the Northern hemisphere (0.04 [0.03; 0.05]) was less than the OR for the Southern hemisphere (0.28 [0.24; 0.32]) with no confidence interval superimposition, indicating than counterclockwise whorls were more frequent in the Southern hemisphere (p < 0.001)., Conclusions: We suggest that hair whorl formation is a genetically determined developmental process that can be influenced by extrinsic environmental factors. Our results furthermore underline the general importance of studies focused on limit phenomena that can provide insights on general developmental mechanisms. We plead for large-scale epidemiological assessments of hair whorls in several Northern and Southern hemisphere populations to confirm these surprising findings suggesting significant modulations of craniofacial development by geographic effects., Competing Interests: Declaration of Competing Interest No conflict of interest., (Copyright © 2023 Elsevier Masson SAS. All rights reserved.)

Background: Stay-at-home injunction during COVID-19 pandemic led to new dynamics in households and increased the risk of domestic accidents involving pets. The aim of the study was to demonstrate an increase of facial dog bites in children during first lockdown period in France, compared to the same period in 2018 and 2019. Secondary objective was to investigate the demographics and circumstances in which dog bites occurred., Methods: A retrospective multicentric study was conducted nationwide. Patients under 18 years old managed in fifteen oral and maxillofacial surgery departments for a dog bite were included., Results: Eighty-seven patients were included. A significant increase of the number of children managed for facial dog bite was noticed in 2020 (p=0.0005). The male-to-female ratio was significantly reversed in 2020 with more bites in girls than boys (p=0.02). In 2020, children were mostly bitten to cheeks (28.6 %), lips-and-chin region (26.2 %), and eyelids (23.8 %). Severe bites increased in 2020, in comparison with 2018 and 2019. Dog bites occurring while petting or playing significantly increased in 2020 (31 %) (p=0.03)., Conclusion: The process leading to bites is highly dependent on the balance of dog-owner relationship. This was strongly disrupted during COVID-19 pandemic, resulting in the increase of dog bites in households. Regarding dog bites, face is the most vulnerable area in children. Its injury has lots of esthetic and functional consequences and maxillofacial surgeons have a key role to play in their prevention. Reminders of some of these management and prevention strategies are presented in this article., Competing Interests: Declaration of Competing Interest None, (Copyright © 2023 Elsevier Masson SAS. All rights reserved.)

Objective: Psychosocial adjustment can be challenging for children with cleft lip with or without a cleft palate (CL ± P). Previous studies have linked social integration with self-acceptance and highlighted the impact of the parents' stress on self-acceptance. Teasing can be linked to children having difficulties explaining their diagnosis to others. This prospective research aimed to gain a better understanding of family communication about cleft, children's oral storytelling about their cleft, and explore their self-image and perceived familial acceptance., Participants: Parents and their children with CL ± P ( N  = 54; average age: 5.6 years)., Design: Semistructured interviews with parents and structured interviews with children were conducted regarding their oral storytelling focusing on scars from cleft lip surgery. Children completed a projective test to explore their self-image and perceptions of familial acceptance. Language screening was completed with the French Wechsler Preschool Primary Scale of Intelligence-Fourth Edition., Results: Only 30% of children explained their cleft in a way appropriate for peers, including presence at birth, having had surgery, and scar location. Children's ability to explain their cleft was not related to language performance, which was in the average range of 84%. Children's cleft explanations were dependent on parents' narratives and education methods, including the use of verbal explanations and preoperative photographs. Children's storytelling was related to their self-image and perceived parental acceptance., Conclusion: Cleft teams should assist families in building their cleft story based on a complete explanation with photographs and a positive and accepting approach., Competing Interests: Declaration of Conflicting InterestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Background: Perioperative airway management following midface advancements in children with Apert and Crouzon/Pfeiffer syndrome can be challenging, and protocols often differ. This study examined airway management following midface advancements and postoperative respiratory complications., Methods: A multicenter, retrospective cohort study was performed to obtain information about the timing of extubation, perioperative airway management, and respiratory complications after monobloc / le Fort III procedures., Results: Ultimately, 275 patients (129 monobloc and 146 Le Fort III) were included; 62 received immediate extubation and 162 delayed extubation; 42 had long-term tracheostomies and nine perioperative short-term tracheostomies. Short-term tracheostomies were in most centers reserved for selected cases. Patients with delayed extubation remained intubated for three days (IQR 2 - 5). The rate of no or only oxygen support after extubation was comparable between patients with immediate and delayed extubation, 58/62 (94%) and 137/162 (85%) patients, respectively. However, patients with immediate extubation developed less postoperative pneumonia than those with delayed, 0/62 (0%) versus 24/161 (15%) (P = 0.001), respectively. Immediate extubation also appeared safe in moderate/severe OSA since 19/20 (95%) required either no or only oxygen support after extubation. The odds of developing intubation-related complications increased by 21% with every extra day of intubation., Conclusions: Immediate extubation following midface advancements was found to be a safe option, as it was not associated with respiratory insufficiency but did lead to fewer complications. Immediate extubation should be considered routine management in patients with no/mild OSA and should be the aim in moderate/severe OSA after careful assessment., Competing Interests: Conflicts of interest: The authors have no conflicts of interest to report., (Copyright © 2024 The Authors. Published by Wolters Kluwer Health, Inc. on behalf of the American Society of Plastic Surgeons. All rights reserved.)

The field of dysmorphology has been changed by the use Artificial Intelligence (AI) and the development of Next Generation Phenotyping (NGP). The aim of this study was to propose a new NGP model for predicting KS (Kabuki Syndrome) on 2D facial photographs and distinguish KS1 (KS type 1, KMT2D-related) from KS2 (KS type 2, KDM6A-related). We included retrospectively and prospectively, from 1998 to 2023, all frontal and lateral pictures of patients with a molecular confirmation of KS. After automatic preprocessing, we extracted geometric and textural features. After incorporation of age, gender, and ethnicity, we used XGboost (eXtreme Gradient Boosting), a supervised machine learning classifier. The model was tested on an independent validation set. Finally, we compared the performances of our model with DeepGestalt (Face2Gene). The study included 1448 frontal and lateral facial photographs from 6 centers, corresponding to 634 patients (527 controls, 107 KS); 82 (78%) of KS patients had a variation in the KMT2D gene (KS1) and 23 (22%) in the KDM6A gene (KS2). We were able to distinguish KS from controls in the independent validation group with an accuracy of 95.8% (78.9-99.9%, p < 0.001) and distinguish KS1 from KS2 with an empirical Area Under the Curve (AUC) of 0.805 (0.729-0.880, p < 0.001). We report an automatic detection model for KS with high performances (AUC 0.993 and accuracy 95.8%). We were able to distinguish patients with KS1 from KS2, with an AUC of 0.805. These results outperform the current commercial AI-based solutions and expert clinicians., (© 2024. The Author(s).)

Background: Abnormalities of the hyoid bone are associated with impairment of oropharyngeal functions including feeding, swallowing, and breathing. Few studies have characterized anatomic abnormalities of the hyoid in patients with Robin sequence (RS), e.g. a less mineralized and voluminous hyoid. The purpose of this study was to compare normal hyoid bone morphology and hyoid bone morphology in children with isolated RS., Methods: Three-dimensional (3D) reconstructions of the hyoid bone were obtained from CT-imaging of children with RS and unaffected controls. A 3D morphable model was constructed using Principal Component Analysis (PCA). Partial least squares - Discriminant Analysis (PLS-DA) and multivariate analysis of variance (MANOVA) were used to characterize and compare hyoid shape differences between patients with RS and an age-matched control group., Results: The study included 23 subjects with RS (mean age 9.8 ± 10.3 months) and 46 age-matched control samples. A less voluminous hyoid was observed for the RS group with a larger lateral divergence of the greater horns compared to controls (MANOVA, p -value<0.001). The first shape variable from the PLS-DA model showed a significant correlation for the observed variance between the two groups (Spearman R  = -0.56, p -value<0.001). The control samples and 151 CT-scans of subjects up to age 4 years were used to create a 3D morphable model of normal hyoid shape variation ( n  = 197, mean age 22.1 ± 13.1 months). For the normal 3D morphable model, a high degree of allometric shape variation was observed along the first principal component., Conclusions: The 3D morphable models provide a comprehensive and quantitative description of variation in normal hyoid bone morphology, and allow detection of distinct differences between patients with isolated RS and controls., Competing Interests: The authors declare no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (© 2024 The Authors. Published by Elsevier Inc.)

Background: Syngnathia is an ultrarare craniofacial malformation characterised by an inability to open the mouth due to congenital fusion of the upper and lower jaws. The genetic causes of isolated bony syngnathia are unknown., Methods: We used whole exome and Sanger sequencing and microsatellite analysis in six patients (from four families) presenting with syngnathia. We used CRISPR/Cas9 genome editing to generate vgll2a and vgll4l germline mutant zebrafish, and performed craniofacial cartilage analysis in homozygous mutants., Results: We identified homozygous truncating variants in vestigial-like family member 2 ( VGLL2 ) in all six patients. Two alleles were identified: one in families of Turkish origin and the other in families of Moroccan origin, suggesting a founder effect for each. A shared haplotype was confirmed for the Turkish patients. The VGLL family of genes encode cofactors of TEAD transcriptional regulators. Vgll2 is regionally expressed in the pharyngeal arches of model vertebrate embryos, and morpholino-based knockdown of vgll2a in zebrafish has been reported to cause defects in development of pharyngeal arch cartilages. However, we did not observe craniofacial anomalies in vgll2a or vgll4l homozygous mutant zebrafish nor in fish with double knockout of vgll2a and vgll4l . In Vgll2 -/- mice, which are known to present a skeletal muscle phenotype, we did not identify defects of the craniofacial skeleton., Conclusion: Our results suggest that although loss of VGLL2 leads to a striking jaw phenotype in humans, other vertebrates may have the capacity to compensate for its absence during craniofacial development., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.)

Objective: This study aimed to assess the relevance of using multi-positional MRI (mMRI) to identify cranio-vertebral junction (CVJ) instability in pediatric patients with CVJ anomalies while determining objective mMRI criteria to detect this condition., Material and Methods: Data from children with CVJ anomalies who underwent a mMRI between 2017 and 2021 were retrospectively reviewed. Mobility assessment using mMRI involved: (1) morphometric analysis using hierarchical clustering on principal component analysis (HCPCA) to identify clusters of patients by considering their mobility similarities, assessed through delta (Δ) values of occipito-cervical parameters measured on mMRI; and (2) morphological analysis based on dynamic geometric CVJ models and analysis of displacement vectors between flexion and extension. Receiver operating characteristics (ROC) curves were generated for occipito-cervical parameters to establish instability cut-off values. (3) Additionally, an anatomical qualitative analysis of the CVJ was performed to identify morphological criteria of instability., Results: Forty-seven patients with CVJ anomalies were included (26 females, 21 males; mean age: 10.2 years [3-18]). HCPCA identified 2 clusters: cluster №1 (stable patients, n = 39) and cluster №2 (unstable patients, n = 8). ΔpB-C2 (pB-C2 line delta) at ≥2.5 mm (AUC 0.98) and ΔBAI (Basion-axis Interval delta) ≥ 3 mm (AUC 0.97) predicted instability with 88% sensibility and 95% specificity and 88% sensitivity and 85% specificity, respectively. Geometric CVJ shape analysis differentiated patients along a continuum, from a low to a high CVJ motion that was characterized by a subluxation of C1 in the anterior direction. Qualitative analysis found correlations between instability and C2 anomalies, including fusions with C3 (body p = 0.032; posterior arch p = 0.045; inferior articular facets p = 0.012; lateral mass p = 0.029)., Conclusions: We identified a cluster of pediatric patients with CVJ instability among a cohort of CVJ anomalies that were characterized by morphometric parameters with corresponding cut-off values that could serve as objective mMRI criteria. These findings warrant further validation through prospective case-control studies.

Aim: The European Reference Network for craniofacial anomalies and ear, nose and throat disorders (ERN-CRANIO) aims to improve craniofacial care on a European scale. Within ERN-CRANIO, the cleft lip and palate (CL/P) work stream seeks to ameliorate health outcomes for patients with CL/P. This work stream acknowledged the need for a European wide registry for comparable outcome measures and therapy endpoints to achieve this goal. This review aimed to provide a scientific basis for the conceptualization of this registry by studying previous registry initiatives., Methods: This review performed thematic analysis on twenty-four articles through narrative synthesis. An iterative process was used to identify key-themes required for prolonged registry success., Results: Analysis of the literature resulted in twenty-one distinct headings including quantitative and qualitative data. Quantitative data including registry characteristics were visualized in a table. The analysis of qualitative data resulted in the identification of fourteen key-themes, which have been summarized and visualized in a guidance., Conclusion: This review has successfully identified key-themes required for the development of an international, multidisciplinary, pediatric registry for pan-European cleft care. The guidance provided by this review applies to the goals of ERN-CRANIO, but can be used by any initiative developing a registry., (© 2023. Institut National de la Santé et de la Recherche Médicale (INSERM).)

Introduction: Mandibulo-Facial Dysostosis with Microcephaly (MFDM) is a rare disease with a broad spectrum of symptoms, characterized by zygomatic and mandibular hypoplasia, microcephaly, and ear abnormalities. Here, we aimed at describing the external ear phenotype of MFDM patients, and train an Artificial Intelligence (AI)-based model to differentiate MFDM ears from non-syndromic control ears (binary classification), and from ears of the main differential diagnoses of this condition (multi-class classification): Treacher Collins (TC), Nager (NAFD) and CHARGE syndromes., Methods: The training set contained 1,592 ear photographs, corresponding to 550 patients. We extracted 48 patients completely independent of the training set, with only one photograph per ear per patient. After a CNN-(Convolutional Neural Network) based ear detection, the images were automatically landmarked. Generalized Procrustes Analysis was then performed, along with a dimension reduction using PCA (Principal Component Analysis). The principal components were used as inputs in an eXtreme Gradient Boosting (XGBoost) model, optimized using a 5-fold cross-validation. Finally, the model was tested on an independent validation set., Results: We trained the model on 1,592 ear photographs, corresponding to 1,296 control ears, 105 MFDM, 33 NAFD, 70 TC and 88 CHARGE syndrome ears. The model detected MFDM with an accuracy of 0.969 [0.838-0.999] ( p  < 0.001) and an AUC (Area Under the Curve) of 0.975 within controls (binary classification). Balanced accuracies were 0.811 [0.648-0.920] ( p  = 0.002) in a first multiclass design (MFDM vs. controls and differential diagnoses) and 0.813 [0.544-0.960] ( p  = 0.003) in a second multiclass design (MFDM vs. differential diagnoses)., Conclusion: This is the first AI-based syndrome detection model in dysmorphology based on the external ear, opening promising clinical applications both for local care and referral, and for expert centers., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2023 Hennocq, Bongibault, Marlin, Amiel, Attie-Bitach, Baujat, Boutaud, Carpentier, Corre, Denoyelle, Djate Delbrah, Douillet, Galliani, Kamolvisit, Lyonnet, Milea, Pingault, Porntaveetus, Touzet-Roumazeille, Willems, Picard, Rio, Garcelon and Khonsari.)

We present a novel method for the morphometric analysis of series of 3D shapes, and demonstrate its relevance for the detection and quantification of two craniofacial anomalies: trigonocephaly and metopic ridges, using CT-scans of young children. Our approach is fully automatic, and does not rely on manual landmark placement and annotations. Our approach furthermore allows to differentiate shape classes, enabling successful differential diagnosis between trigonocephaly and metopic ridges, two related conditions characterized by triangular foreheads. These results were obtained using recent developments in automatic nonrigid 3D shape correspondence methods and specifically spectral approaches based on the functional map framework. Our method can capture local changes in geometric structure, in contrast to methods based, for instance, on global shape descriptors. As such, our approach allows to perform automatic shape classification and provides visual feedback on shape regions associated with different classes of deformations. The flexibility and generality of our approach paves the way for the application of spectral methods in quantitative medicine., (© 2023 Wiley Periodicals LLC.)

Knowledge of human craniofacial growth (increase in size) and development (change in shape) is important in the clinical treatment of a range of conditions that affects it. This study uses an extensive collection of clinical CT scans to investigate craniofacial growth and development over the first 48 months of life, detail how the cranium changes in form (size and shape) in each sex and how these changes are associated with the growth and development of various soft tissues such as the brain, eyes and tongue and the expansion of the nasal cavity. This is achieved through multivariate analyses of cranial form based on 3D landmarks and semi-landmarks and by analyses of linear dimensions, and cranial volumes. The results highlight accelerations and decelerations in cranial form changes throughout early childhood. They show that from 0 to 12 months, the cranium undergoes greater changes in form than from 12 to 48 months. However, in terms of the development of overall cranial shape, there is no significant sexual dimorphism in the age range considered in this study. In consequence a single model of human craniofacial growth and development is presented for future studies to examine the physio-mechanical interactions of the craniofacial growth., (© 2023. The Author(s).)

The use of non-destructive approaches for digital acquisition (e.g. computerised tomography-CT) allows detailed qualitative and quantitative study of internal structures of skeletal material. Here, we present a new R-based software tool, Icex, applicable to the study of the sizes and shapes of skeletal cavities and fossae in 3D digital images. Traditional methods of volume extraction involve the manual labelling (i.e. segmentation) of the areas of interest on each section of the image stack. This is time-consuming, error-prone and challenging to apply to complex cavities. Icex facilitates rapid quantification of such structures. We describe and detail its application to the isolation and calculation of volumes of various cranial cavities. The R tool is used here to automatically extract the orbital volumes, the paranasal sinuses, the nasal cavity and the upper oral volumes, based on the coordinates of 18 cranial anatomical points used to define their limits, from 3D cranial surface meshes obtained by segmenting CT scans. Icex includes an algorithm (Icv) for the calculation of volumes by defining a 3D convex hull of the extracted cavity. We demonstrate the use of Icex on an ontogenetic sample (0-19 years) of modern humans and on the fossil hominin crania Kabwe (Broken Hill) 1, Gibraltar (Forbes' Quarry) and Guattari 1. We also test the tool on three species of non-human primates. In the modern human subsample, Icex allowed us to perform a preliminary analysis on the absolute and relative expansion of cranial sinuses and pneumatisations during growth. The performance of Icex, applied to diverse crania, shows the potential for an extensive evaluation of the developmental and/or evolutionary significance of hollow cranial structures. Furthermore, being open source, Icex is a fully customisable tool, easily applicable to other taxa and skeletal regions., (© 2023 The Authors. Journal of Anatomy published by John Wiley & Sons Ltd on behalf of Anatomical Society.)

Two to three thousand syndromes modify facial features: their screening requires the eye of an expert in dysmorphology. A widely used tool in shape characterization is geometric morphometrics based on landmarks, which are precise and reproducible anatomical points. Landmark positioning is user dependent and time consuming. Many automatic landmarking tools are currently available but do not work for children, because they have mainly been trained using photographic databases of healthy adults. Here, we developed a method for building an automatic landmarking pipeline for frontal and lateral facial photographs as well as photographs of external ears. We evaluated the algorithm on patients diagnosed with Treacher Collins (TC) syndrome as it is the most frequent mandibulofacial dysostosis in humans and is clinically recognizable although highly variable in severity. We extracted photographs from the photographic database of the maxillofacial surgery and plastic surgery department of Hôpital Necker-Enfants Malades in Paris, France with the diagnosis of TC syndrome. The control group was built from children admitted for craniofacial trauma or skin lesions. After testing two methods of object detection by bounding boxes, a Haar Cascade-based tool and a Faster Region-based Convolutional Neural Network (Faster R-CNN)-based tool, we evaluated three different automatic annotation algorithms: the patch-based active appearance model (AAM), the holistic AAM, and the constrained local model (CLM). The final error corresponding to the distance between the points placed by automatic annotation and those placed by manual annotation was reported. We included, respectively, 1664, 2044, and 1375 manually annotated frontal, profile, and ear photographs. Object recognition was optimized with the Faster R-CNN-based detector. The best annotation model was the patch-based AAM (p < 0.001 for frontal faces, p = 0.082 for profile faces and p < 0.001 for ears). This automatic annotation model resulted in the same classification performance as manually annotated data. Pretraining on public photographs did not improve the performance of the model. We defined a pipeline to create automatic annotation models adapted to faces with congenital anomalies, an essential prerequisite for research in dysmorphology., (© 2023 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)

Background: Achondroplasia is the most frequent FGFR3-related chondrodysplasia, leading to rhizomelic dwarfism, craniofacial anomalies, stenosis of the foramen magnum, and sleep apnea. Craniofacial growth and its correlation with obstructive sleep apnea syndrome has not been assessed in achondroplasia. In this study, we provide a multimodal analysis of craniofacial growth and anatomo-functional correlations between craniofacial features and the severity of obstructive sleep apnea syndrome., Methods: A multimodal study was performed based on a paediatric cohort of 15 achondroplasia patients (mean age, 7.8 ± 3.3 years), including clinical and sleep study data, 2D cephalometrics, and 3D geometric morphometry analyses, based on CT-scans (mean age at CT-scan: patients, 4.9 ± 4.9 years; controls, 3.7 ± 4.2 years)., Results: Craniofacial phenotype was characterized by maxillo-zygomatic retrusion, deep nasal root, and prominent forehead. 2D cephalometric studies showed constant maxillo-mandibular retrusion, with excessive vertical dimensions of the lower third of the face, and modifications of cranial base angles. All patients with available CT-scan had premature fusion of skull base synchondroses. 3D morphometric analyses showed more severe craniofacial phenotypes associated with increasing patient age, predominantly regarding the midface-with increased maxillary retrusion in older patients-and the skull base-with closure of the spheno-occipital angle. At the mandibular level, both the corpus and ramus showed shape modifications with age, with shortened anteroposterior mandibular length, as well as ramus and condylar region lengths. We report a significant correlation between the severity of maxillo-mandibular retrusion and obstructive sleep apnea syndrome (p < 0.01)., Conclusions: Our study shows more severe craniofacial phenotypes at older ages, with increased maxillomandibular retrusion, and demonstrates a significant anatomo-functional correlation between the severity of midface and mandible craniofacial features and obstructive sleep apnea syndrome., (© 2023. The Author(s).)

Purpose: The aim of this study was to investigate the biomechanics of endoscopically assisted strip craniectomy treatment for the management of sagittal craniosynostosis while undergoing three different durations of postoperative helmet therapy using a computational approach., Methods: A previously developed 3D model of a 4-month-old sagittal craniosynostosis patient was used. The strip craniectomy incisions were replicated across the segmented parietal bones. Areas across the calvarial were selected and constrained to represent the helmet placement after surgery. Skull growth was modelled and three variations of helmet therapy were investigated, where the timings of helmet removal alternated between 2, 5, and 8 months after surgery., Results: The predicted outcomes suggest that the prolonging of helmet placement has perhaps a beneficial impact on the postoperative long-term morphology of the skull. No considerable difference was found on the pattern of contact pressure at the interface of growing intracranial volume and the skull between the considered helmeting durations., Conclusion: Although the validation of these simulations could not be performed, these simulations showed that the duration of helmet therapy after endoscopically assisted strip craniectomy influenced the cephalic index at 36 months. Further studies require to validate these preliminary findings yet this study can lay the foundations for further studies to advance our fundamental understanding of mechanics of helmet therapy., (© 2022. The Author(s).)

Introduction: Among non-syndromic, single-suture craniosynostoses, unicoronal craniosynostosis (UCS) presents the highest rate of ophthalmic manifestations requiring a visual follow-up, due to the high risk of amblyopia. After birth or during childhood, children with UCS have a high risk to present an aniso-astigmatism and a strabismus. The aim of this study was to characterize clinical ophthalmologic findings associated with UCS in a paediatric cohort., Methods: This retrospective study included children admitted in our unit between 2015 and 2021, with isolated UCS treated in our institution and complete ophthalmological assessment comprising visual assessment, refractive status and oculomotor examination. Children with associated craniofacial disorders were excluded., Results: A total of 28 children met the inclusion criteria. Median age was 62 [13-192] months with a large proportion of girls (86%) and 71% of right-sided UCS. The mean best corrected visual acuity was 0.07 (±0.13) LogMAR, including 10 (36%) children with an amblyopia or history of amblyopia. Astigmatism was significantly higher on the contralateral side of the UCS than on the ipsilateral side, with a refractive cylinder error of 0.97 (±1.06) vs 0.56 (±0.68) diopters, respectively (p = 0.03). Strabismus was observed in 20 patients (71%) with a main pattern of esotropia with a vertical component. A pseudo-superior oblique palsy was found in 13 children (65%) with a median cyclodeviation of 8.7° [-5,4°-20.6°]., Conclusion: Children with UCS experience a high rate of various visual manifestations. This study highlights their need for a strict ophthalmological follow-up, in order to early diagnose and prevent visual complications.

Introduction: A strict lockdown was decided from 17/03/2020 to 11/05/2020 in France in order to tackle the first wave of the COVID19 pandemic. In the Great Paris region, several areas are severely affected by overcrowding, creating difficult conditions for children and their families during a period of nearly two months. The objective was to assess the effects of the 2020 spring lockdown on injuries, child abuse and neglect., Material and Methods: The central medical data warehouse was screened for all pediatric admissions at emergency and critical care departments of 20 hospitals, in a cohort of 12942 children. Specific keywords were used to screen for both injuries and child abuse and neglect., Results: We found head and neck trauma (1.2% in 2020 vs. 0.7% in 2019, p<0.001), burns (0.6% in 2020 vs. 0.1% in 2019, p < 0.001), lacerations (0.5% in 2020 vs. 0.3% in 2019, p<0.001), fractures (0.5% in 2020 vs. 0.3% in 2019, p<0.017), dog bites (0.1% in 2020 vs. 0.0% in 2019, p<0.001), and child abuse and neglect (18 cases during the 2020 lockdown vs. 24 cases in 2019, p=0.005) were significantly more prevalent during this period than during the same control period in 2019., Conclusions: These results indicate that specific prevention measures are crucial if strict lockdowns are to be decided in the future., Competing Interests: Declarations of Competing Interest None., (Copyright © 2022. Published by Elsevier Ltd.)

Intentional skull deformations have been practiced by every human population, from the prehistoric times until the XXth century. In Europe, they were specifically prevalent in the region of Toulouse, France. The soft-tissue modifications due to such practices are not well characterized in the literature due to the rarity of photographic data. Most studies on skull deformations are thus based on skeletal remains. Here we performed a controlled geometric morphometric assessment of 31 frontal pictures and 70 lateral pictures of individuals from Toulouse with intentional deformations extracted from two XIXth century historical French photographic archives. We also measured the forces exerted on the skull vault by the traditional deformation device from Toulouse using a 3D-printed skull and pressure sensors. We showed that individuals with Toulouse deformations have distinctive facial features, caused by moderate forces exerted on the skull vault. Our results exhibit and quantify for the first time the real face of intentional skull deformations, which are a ubiquitous and distinctive feature of the human species., (Copyright © 2022 Elsevier Masson SAS. All rights reserved.)

Introduction: Craniosynostoses affect 1/2000 births and their incidence is currently increasing. Without surgery, craniosynostosis can lead to neurological issues due to restrained brain growth and social stigma due to abnormal head shapes. Understanding growth patterns is essential to develop surgical planning approaches and predict short- and long-term post-operative results. Here we provide a systematic review of normal and pathological cranial vault growth models., Material and Methods: The systematic review of the literature identified descriptive and comprehensive skull growth models with the following criteria: full text articles dedicated to the skull vault of children under 2 years of age, without focus on molecular and cellular mechanisms. Models were analysed based on initial geometry, numerical method, age determination method and validation process., Results: A total of 14 articles including 17 models was reviewed. Four descriptive models were assessed, including 3 models using statistical analyses and 1 based on deformational methods. Thirteen comprehensive models were assessed including 7 finite element models and 6 diffusion models. Results from the current literature showed that successful models combined analyses of cranial vault shape and suture bone formation., Discussion: Growth modelling is central when assessing craniofacial architecture in young patients and will be a key factor in the development of future customized treatment strategies. Recurrent technical difficulties were encountered by most authors when generalizing a specific craniosynostosis model to all types of craniosynostoses, when assessing the role of the brain and when attempting to relate the age with different stages of growth., Competing Interests: Declaration of Competing Interest The authors declare that there is no conflict of interest., (Copyright © 2022 Elsevier Masson SAS. All rights reserved.)

Aim and Scope: The prevalence of increased intra-cranial pressure (ICP) in patients with scaphocephaly is controversial. Here, based on anthropological material, we aimed to determine whether adults with non-operated sagittal synostosis show indirect signs of increased ICP., Materials and Methods: Thirty-eight dry skulls (21 skulls with sagittal craniosynostosis and 17 controls) were selected from the collections of the National Museum of Natural History (Paris, France). All skulls registered as 'fused sagittal suture' or 'scaphocephaly' in the registry of the Museum were included. All had total fusion of the sagittal suture. Controls were selected within skulls of similar origin (France), without visible craniofacial anomalies. The 38 skulls were CT-scanned using a standard medical CT-scan with a protocol dedicated to dry bone imaging. Eight radiological signs associated with raised ICP were assessed: (1) calvaria and (2) skull base thinning, (3) dorsum sellae erosion, (4) sella turcica lengthening, (5) copper beaten skull, (6) suture diastasis, (7) persistent metopic suture, and (8) small frontal sinus. Scaphocephaly was assessed based on head circumference, cranial index, intra-cranial volume, fronto-nasal angle, and inter-zygomatic distance. Linear and non-linear logistic models were used to compare groups., Results: 19/21 skulls with sagittal synostosis were significantly scaphocephalic. None of the criteria for ICP were significantly different in skulls with scaphocephaly relative to controls. Nevertheless, 5 individual skulls with scaphocephaly had ≥ 3 signs in favor of a history of raised ICP. We do not report the significant prevalence of indirect signs of raised ICP in adults with scaphocephaly. These results do not allow ruling out a history of early raised ICP or of minor prolonged raised ICP. Even though our findings support the fact that scaphocephaly is not significantly associated with prolonged raised ICP, individual cases (5/21) with clear signs in favor of a history of brain compression indicate that scaphocephaly correction should be considered as a functional procedure until the production of clear evidence. Cognitive assessments of non-operated adult patients with scaphocephaly could contribute to tackle this recurring question in craniofacial surgery., Competing Interests: Declaration of interests The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2022. Published by Elsevier Masson SAS.)