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1.
Proc Biol Sci ; 291(2025): 20240654, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38889789

RESUMO

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.


Assuntos
Força de Mordida , Crânio , Lactente , Humanos , Fenômenos Biomecânicos , Crânio/anatomia & histologia , Pré-Escolar , Tomografia Computadorizada por Raios X , Análise de Elementos Finitos , Feminino , Masculino , Mastigação , Adaptação Fisiológica , Recém-Nascido , Estresse Mecânico , Músculos da Mastigação/fisiologia
2.
J Med Genet ; 60(11): 1084-1091, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37666660

RESUMO

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.

3.
Am J Med Genet A ; 191(5): 1210-1221, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36714960

RESUMO

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.


Assuntos
Disostose Mandibulofacial , Doenças Raras , Adulto , Humanos , Criança , Algoritmos , Imageamento Tridimensional/métodos , Pontos de Referência Anatômicos/anatomia & histologia
4.
Cleft Palate Craniofac J ; : 10556656221126268, 2022 Sep 13.
Artigo em Inglês | MEDLINE | ID: mdl-36112838

RESUMO

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.

5.
J Craniofac Surg ; 32(6): e584-e586, 2021 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-34054098

RESUMO

ABSTRACT: Successful head and neck reconstructions tackle both morphological and functional issues within treatment plans involving multiple coordinated steps. Nowadays, biomaterials, computer-assisted surgery, and free tissue transfers have greatly increased the potentialities of craniofacial surgeons. 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. Here we report a case of facial reconstruction after gunshot trauma performed by Paul Tessier based on his "craniofacial autarchy" principle, that is using solely local flaps and grafts harvested in the head and neck area. This case involved 30 procedures on the mandible, maxilla, chin, lips, and nose. Based on data from the archives from the "Association Française des Chirurgiens de la Face" (Amiens, France) we provide details on Tessier's approach to surgical planning and on his global conception of treatment plans in reconstructive surgery.


Assuntos
Procedimentos de Cirurgia Plástica , Cirurgia Plástica , Ferimentos por Arma de Fogo , Face , Humanos , Retalhos Cirúrgicos , Ferimentos por Arma de Fogo/cirurgia
6.
J Craniofac Surg ; 31(3): 711-715, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32011541

RESUMO

AIM AND SCOPE: Children with Apert syndrome have a characteristic inversion of the orientation of the palpebral fissures, an increase of the inter-orbital distance, telecanthus, and exorbitism. Here, Le Fort III osteotomy with subcranial bipartition and distraction osteogenesis was evaluated as a tool to improve the position of the palpebral fissures in Apert syndrome. MATERIAL AND METHODS: All patients with Apert syndrome who underwent Le Fort 3 osteotomy with subcranial bipartition and distraction osteogenesis using an external device, with canthopexy, between 2009 and 2014, with available preoperative and postoperative frontal photographs, were included into the study. Palpebral fissure inclination was measured. Ratios of the intercanthal distance (ICD) to the outer-canthal distance (OCD) and the interpupillary distance to the OCD were computed. Preoperative and postoperative values were compared using the Wilcoxon signed-ranks test. RESULTS: The authors included 15 patients with Apert syndrome. The mean age at surgery was 10 ±â€Š3.4 years and the average follow-up was 7.3 ±â€Š2.9 years. We found normalization of the negative inclination of the palpebral fissures (right eye: 10.7 ±â€Š2.4 degrees preoperatively versus 7.0 ±â€Š3.1 degrees postoperatively, P < 0.001; left eye: 12.4 ±â€Š3.9 degrees preoperatively versus 8.7 ±â€Š4.1 degrees postoperatively, P = 0.01) and a significant reduction of the inter-pupillary distance: OCD ratio (0.717 ±â€Š0.027 preoperatively versus 0.699 ±â€Š0.030 postoperatively, P = 0.03). These modifications were stable on the long term. There was no significant change of the inter-canthal distance:OCD ratio. CONCLUSIONS: Le Fort III facial advancement with subcranial bipartition and distraction improves the position and orientation of the orbital region in children with Apert syndrome.


Assuntos
Acrocefalossindactilia/cirurgia , Órbita/cirurgia , Adolescente , Criança , Pálpebras/cirurgia , Feminino , Humanos , Masculino , Osteogênese por Distração , Osteotomia de Le Fort , Período Pós-Operatório
7.
J Anat ; 2018 Jun 21.
Artigo em Inglês | MEDLINE | ID: mdl-29926913

RESUMO

Intentional cranial deformations are the result of external mechanical forces exerted on the skull vault that modify the morphology of various craniofacial structures such as the skull base, the orbits and the zygoma. In this controlled study, we investigated the 3D shape of the orbital inner mould and the orbital volume in various types of intentional deformations and in adult non-operated scaphocephaly - the most common type of craniosynostosis - using dedicated morphometric methods. CT scans were performed on 32 adult skulls with intentional deformations, 21 adult skull with scaphocephaly and 17 non-deformed adult skulls from the collections of the Muséum national d'Histoire naturelle in Paris, France. The intentional deformations group included six skulls with Toulouse deformations, eight skulls with circumferential deformations and 18 skulls with antero-posterior deformations. Mean shape models were generated based on a semi-automatic segmentation technique. Orbits were then aligned and compared qualitatively and quantitatively using colour-coded distance maps and by computing the mean absolute distance, the Hausdorff distance, and the Dice similarity coefficient. Orbital symmetry was assessed after mirroring, superimposition and Dice similarity coefficient computation. We showed that orbital shapes were significantly and symmetrically modified in intentional deformations and scaphocephaly compared with non-deformed control skulls. Antero-posterior and circumferential deformations demonstrated a similar and severe orbital deformation pattern resulting in significant smaller orbital volumes. Scaphocephaly and Toulouse deformations had similar deformation patterns but had no effect on orbital volumes. This study showed that intentional deformations and scaphocephaly significantly interact with orbital growth. Our approach was nevertheless not sufficient to identify specific modifications caused by the different types of skull deformations or by scaphocephaly.

8.
J Oral Maxillofac Surg ; 76(11): 2307-2315, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-29733804

RESUMO

PURPOSE: Bilateral nontraumatic temporomandibular joint (TMJ) dislocation is an acute situation that can lead to a chronic and recurrent condition. Few pediatric cases have been reported in the literature and no standardized care protocol has been established to date. MATERIALS AND METHODS: Two cases of chronic bilateral dislocation of the TMJ in young children are reported and their medical management is discussed based on data from the literature. RESULTS: A 26 months-old child and a 19-months old child were included. Both had chronic bilateral TMJ dislocation managed using a combination of reduction under nitrous oxide sedation, reduction under general anesthesia, chin-to-vertex bandage and orthodontic headgear. CONCLUSION: TMJ dislocations in children raise specific concerns such as the need for screening for underlying congenital disorders of connective tissues. Furthermore, surgical options in children are very limited. The authors propose a standardized management protocol for recurrent joint dislocation in pediatric populations based on 2 new cases and data from the literature.


Assuntos
Luxações Articulares/fisiopatologia , Luxações Articulares/terapia , Transtornos da Articulação Temporomandibular/fisiopatologia , Transtornos da Articulação Temporomandibular/terapia , Anestesia Geral , Pré-Escolar , Sedação Consciente , Aparelhos de Tração Extrabucal , Feminino , Humanos , Lactente , Luxações Articulares/diagnóstico por imagem , Masculino , Recidiva , Transtornos da Articulação Temporomandibular/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Resultado do Tratamento
9.
J Craniofac Surg ; 29(7): 1713-1716, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30169450

RESUMO

The Musée Dupuytren was a Parisian pathology museum established in 1835. This museum hosted 3 skulls with severe craniofacial lesions initially tagged as aggressive forms of tinea capitis. The aim of this study was to investigate these specimens and discuss the initial diagnosis. Historical investigations were conducted based on the biographic data from the tags of the 3 skulls and entries on the catalog of the museum. Age was determined using dentition and the patency of cranial base synchondroses. The computed tomography scans were performed using standard medical devices. The 3 skulls were from the late 18th to early 19th century. Skull № 1 was a 5-year-old child and presented with microcephaly and extensive vault osteolysis compatible with an aggressive benign lesion, a malignant tumor, or a chronic infection. Skull № 2 was a 12- to 18-year-old teenager and presented with symmetrical porotic hyperostosis compatible with undernutrition and various hematologic conditions causing prolonged anemia, but also with chronic inflammation and/or infection. Skull № 3 was also from a 12- to 18-year-old teenager and presented with focal temporal osteolysis compatible with an aggressive benign or a low-grade malignant temporal soft-tissue lesion or with chronic infection. These skulls contribute to the understanding of the concept of tinea in the 19th century. They are furthermore windows on the sanitary and social conditions in Paris in the years following the French revolution and during the Napoleonian wars.


Assuntos
Paleopatologia/história , Crânio/diagnóstico por imagem , Tinha do Couro Cabeludo/história , Adolescente , Criança , Pré-Escolar , Dentição , Feminino , História do Século XVIII , História do Século XIX , Humanos , Masculino , Museus , Paris , Tinha do Couro Cabeludo/diagnóstico , Tomografia Computadorizada por Raios X , Dente/patologia
10.
J Oral Maxillofac Surg ; 73(5): 934.e1-7, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25883008

RESUMO

Stafne bone cavities (SBCs) are mandibular radiolucent lesions with challenging differential diagnoses. Many radiologic methods have been proposed to visualize the presence of salivary gland tissues inside the cavities. This report describes a case of bilateral angular mandibular radiolucent cavities located below the mandibular nerve canal. Magnetic resonance (MR) imaging showed continuity between the submandibular glands and the tissue herniated into the cavities. The ductal system of the 2 submandibular glands was evaluated using MR sialography. MR sialography depicted opacification of the glandular ductal system distinct from the contents of the cavities up to its primary branches, confirming the diagnosis of SBC. MR sialography visualized the submandibular gland ducts and the presence of salivary gland tissue inside the mandibular cavities with precise topographic information. This technique does not involve cannulation or injection of contrast agents and does not expose a patient to radiation. MR sialography is a valuable addition to the common imaging procedures used in the investigation of SBCs.


Assuntos
Imageamento por Ressonância Magnética/métodos , Sialografia/métodos , Idoso , Idoso de 80 Anos ou mais , Humanos , Masculino , Mandíbula/diagnóstico por imagem , Mandíbula/patologia , Dente Serotino/diagnóstico por imagem , Dente Serotino/patologia , Radiografia Panorâmica
11.
J Oral Maxillofac Surg ; 72(11): 2105-6, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25438270

RESUMO

Handling 3-dimensional reconstructions of computed tomographic scans on portable devices is problematic because of the size of the Digital Imaging and Communications in Medicine (DICOM) stacks. The authors provide a user-friendly method allowing the production, transfer, and sharing of good-quality 3-dimensional reconstructions on smartphones and tablets.


Assuntos
Microcomputadores , Salas Cirúrgicas/organização & administração , Software , Tomografia Computadorizada por Raios X/métodos , Telefone Celular
12.
Plast Reconstr Surg Glob Open ; 12(5): e5780, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38756957

RESUMO

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.

13.
J Stomatol Oral Maxillofac Surg ; : 101942, 2024 Jun 17.
Artigo em Inglês | MEDLINE | ID: mdl-38897383

RESUMO

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.

14.
Plast Reconstr Surg ; 2024 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-39287645

RESUMO

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.

15.
Ann Biomed Eng ; 2024 Aug 22.
Artigo em Inglês | MEDLINE | ID: mdl-39174762

RESUMO

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.

16.
J Stomatol Oral Maxillofac Surg ; 125(2): 101664, 2024 04.
Artigo em Inglês | MEDLINE | ID: mdl-37913994

RESUMO

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.


Assuntos
Determinismo Genético , Cabelo , Criança , Humanos , França , Lateralidade Funcional/genética , Estudos Retrospectivos
17.
J Morphol ; 285(7): e21748, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38938002

RESUMO

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.


Assuntos
Cadáver , Humanos , Fenômenos Biomecânicos , Adulto , Masculino , Feminino , Amplitude de Movimento Articular , Articulação Atlantoccipital/anatomia & histologia , Vértebras Cervicais/anatomia & histologia , Pessoa de Meia-Idade , Idoso , Articulação Atlantoaxial/anatomia & histologia
18.
Orphanet J Rare Dis ; 19(1): 204, 2024 May 18.
Artigo em Inglês | MEDLINE | ID: mdl-38762603

RESUMO

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.


Assuntos
Craniossinostoses , Humanos , Craniossinostoses/diagnóstico por imagem , Craniossinostoses/patologia , Craniossinostoses/diagnóstico , Feminino , Masculino , Lactente , Imageamento Tridimensional/métodos , Crânio/diagnóstico por imagem , Crânio/patologia
19.
iScience ; 27(9): 110617, 2024 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-39220256

RESUMO

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.

20.
J Stomatol Oral Maxillofac Surg ; 125(2): 101671, 2024 04.
Artigo em Inglês | MEDLINE | ID: mdl-37898301

RESUMO

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.


Assuntos
Mordeduras e Picadas , COVID-19 , Criança , Animais , Humanos , Masculino , Feminino , Cães , Adolescente , Saúde Pública , Estudos Retrospectivos , Pandemias , COVID-19/epidemiologia , Controle de Doenças Transmissíveis , Acidentes , Mordeduras e Picadas/epidemiologia , Mordeduras e Picadas/terapia
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