Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 110
Filtrar
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 Anat ; 2024 May 17.
Artigo em Inglês | MEDLINE | ID: mdl-38760955

RESUMO

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.

3.
J Anat ; 2024 May 23.
Artigo em Inglês | MEDLINE | ID: mdl-38783688

RESUMO

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.

4.
Prenat Diagn ; 2024 Apr 18.
Artigo em Inglês | MEDLINE | ID: mdl-38635411

RESUMO

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.

5.
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.

6.
J Anat ; 242(6): 1172-1183, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36774197

RESUMO

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.


Assuntos
Seios Paranasais , Crânio , Animais , Crânio/diagnóstico por imagem , Primatas , Tomografia Computadorizada por Raios X , Cavidade Nasal
7.
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
8.
Childs Nerv Syst ; 39(4): 989-996, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36565313

RESUMO

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.


Assuntos
Craniossinostoses , Humanos , Lactente , Fenômenos Biomecânicos , Craniossinostoses/cirurgia , Crânio/cirurgia , Craniotomia , Cabeça , Resultado do Tratamento , Estudos Retrospectivos
9.
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.

10.
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
11.
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
12.
J Craniofac Surg ; 31(6): 1841-1843, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32833831

RESUMO

Pre-emptive planning to optimize safety and outcome is a defining principle of pediatric craniofacial surgery, in which "procedures that come before" should enhance and not compromise procedures that are planned to follow.A technical modification of fronto-orbital advancement/remodeling in 2-stage hypertelorism surgery for craniofrontonasal dysplasia is presented, where orbital hypertelorism is accompanied by coronal craniosynostosis. Fronto-orbital advancement/remodeling undertaken by this approach preserves bone in the supero-lateral bandeau and provides optimal quality bone stock for the subsequent orbital box shift osteotomy. In this way the second procedure is protected and enhanced by optimal planning of the primary procedure, with potential benefits to safety, quality, and outcome of the final result.


Assuntos
Anormalidades Craniofaciais/cirurgia , Hipertelorismo/cirurgia , Órbita/cirurgia , Anormalidades Craniofaciais/complicações , Craniossinostoses/complicações , Craniossinostoses/cirurgia , Humanos , Hipertelorismo/etiologia , Procedimentos de Cirurgia Plástica/métodos , Retalhos Cirúrgicos/cirurgia
13.
Radiology ; 286(3): 1088-1092, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29461948

RESUMO

History A 21-year-old man with a history of abuse of multiple drugs and mild cognitive impairment who initially underwent treatment for excited delirium developed respiratory arrest shortly after admission and was successfully resuscitated. Unenhanced computed tomography (CT) of the head and neck and contrast material-enhanced CT of the chest, abdomen, pelvis, and complete spine were performed shortly after the initial treatment. Head and neck magnetic resonance (MR) imaging was performed 24 hours after admission. No other abnormalities were noted. There were no fractures, and there was no vascular injury in the head and neck region. The patient had no external neck injuries, congestion, or petechiae suggesting neck compression. He had no history of chronic or recurrent pain or skin rash. Urine testing was positive for cocaine, cannabis, and methamphetamine. Serum creatine kinase level was initially high (31 117 U/L [520 µkat/L]; normal, 1000 U/L [16.7 µkat/L]). Corrected calcium level was 2.22 mmol/L, and ionized calcium level was 1.09 mmol/L (lower end of the normal range). There was no acute renal failure at the initial phase, but serum creatinine levels reached 180 µmol/L 24 hours after admission, and creatine kinase peaked at 61 000 U/L [1019 µkat/L]. Urine was initially red, but the patient was not tested for myoglobinuria.


Assuntos
Cabeça , Músculos do Pescoço , Rabdomiólise , Adulto , Delírio , Cabeça/diagnóstico por imagem , Cabeça/patologia , Cabeça/fisiopatologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Músculos do Pescoço/diagnóstico por imagem , Músculos do Pescoço/patologia , Músculos do Pescoço/fisiopatologia , Rabdomiólise/diagnóstico por imagem , Rabdomiólise/patologia , Rabdomiólise/fisiopatologia , Tomografia Computadorizada por Raios X , Adulto Jovem
14.
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.

15.
Am J Med Genet A ; 176(7): 1614-1617, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29704302

RESUMO

Ankyloglossia is a congenital oral anomaly characterized by the presence of a hypertrophic and short lingual frenulum. Mutations in the gene encoding the transcription factor TBX22 have been involved in isolated ankyloglossia and X-linked cleft palate. The knockout of Lgr5 in mice results in ankyloglossia. Here, we report a five-generation family including patients with severe ankyloglossia and missing lower central incisors. Two members of this family also exhibited congenital anorectal malformations. In this report, male-to-male transmission was in favor of an autosomal dominant inheritance, which allowed us to exclude the X-linked TBX22 gene. Linkage analysis using short tandem repeat markers located in the vicinity of LGR5 excluded this gene as a potential candidate. These results indicate genetic heterogeneity for ankyloglossia. Further investigations with additional families are required in order to identify novel candidate genes.


Assuntos
Anquiloglossia/patologia , Genes Dominantes , Anormalidades Dentárias/patologia , Anquiloglossia/genética , Feminino , Genes Ligados ao Cromossomo X , Humanos , Recém-Nascido , Masculino , Mutação , Linhagem , Fenótipo , Anormalidades Dentárias/genética
16.
J Oral Maxillofac Surg ; 76(7): 1553-1558, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29362165

RESUMO

PURPOSE: Patients with Noonan syndrome often require surgery at young ages. They are at high risk of perioperative bleeding from coagulation defects that might not have been detected by routine screening. These risks are rarely described in the oral and maxillofacial surgery (OMS) literature. The aim of this study was to evaluate the perioperative bleeding risks associated with Noonan syndrome and to propose preoperative guidelines. MATERIALS AND METHODS: This report describes a retrospective case series of patients with Noonan syndrome who underwent OMS procedures during a continuous observational period (2013 through 2016) in the authors' center. Clinical data, blood screening test results, and perioperative bleeding were analyzed. RESULTS: Five patients (age, 4 to 20 yr) with Noonan syndrome who underwent OMS procedures were included in this study. One patient presented a spontaneous bleeding tendency (epistaxis requiring cauterization). Blood screening showed clotting defects in 3 patients. One patient presented abnormal perioperative bleeding owing to a mild defect in factor XI. CONCLUSION: Patients with Noonan syndrome must be referred to a hematologist for specific preoperative investigations and for adapted perioperative management.


Assuntos
Testes de Coagulação Sanguínea , Síndrome de Noonan/cirurgia , Hemorragia Bucal/prevenção & controle , Procedimentos Cirúrgicos Bucais , Cuidados Pré-Operatórios , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Estudos Retrospectivos , Adulto Jovem
17.
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
18.
Pediatr Dermatol ; 35(5): 644-650, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30024070

RESUMO

BACKGROUND: Fibroblastic connective tissue nevi (FCTN) are benign skin conditions characterized by bland spindle cells infiltrating the reticular dermis and the upper subcutis with preservation of adnexal structures. A subset of FCTN expresses CD34, which may cause difficulties in the differential diagnosis, in particular with dermatofibrosarcoma (DFSP). We aim to study clinical and histological main features of congenital FCTN to better understand their heterogeneity. METHODS: We present 3 cases of congenital FCTN with misleading pseudo-tumoral presentations and compare them with published cases in literature. We provide a diagnostic algorithm for congenital neonatal connective tissue tumors. RESULTS: Clinically, FCTN mostly present as well-limited and nontender plaques or nodules mainly located in the neck and face areas or in the trunk. Histologically, FCTN are composed of irregularly distributed fascicles of bland spindled cells and are defined by a list of fundamental features: (i) no atypia, pleomorphism, or mitotic activity; (ii) skin appendages entrapped but unaffected; (iii) no evidence for malignancy. In most cases CD34 is positive, but in some cases, cells can express SMA or are even CD34- and SMA-. CONCLUSION: The initial presentation and natural history of FCTN fit better with a neoplasm than with a hamartoma. Thus, we suggest replacing the term "nevus" with tumor and considering fibroblastic connective tissue tumor (FCTT) as the right denomination of this clinico-pathological entity. FCTTs are difficult to diagnose due to their clinical heterogeneity. Clinical and histological malignant and benign differential diagnoses are discussed.


Assuntos
Nevo/patologia , Neoplasias Cutâneas/patologia , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Nevo/cirurgia , Pele/patologia , Neoplasias Cutâneas/cirurgia
19.
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
20.
J Oral Maxillofac Surg ; 75(9): 1906-1914, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28388396

RESUMO

Ramsay-Hunt syndrome (RHS) is a rare complication of herpes zoster in which reactivation of latent varicella zoster virus (VZV) infection occurs in the geniculate ganglion. Major clinical findings are peripheral facial nerve palsy accompanied by ipsilateral ear pain and erythematous vesicular rash on the external ear (herpes zoster oticus) and in the mouth. Thus, diagnosis of RHS is usually clinical. However, auricular herpetic eruption is not always present, making diagnosis more difficult. This report describes a case of RHS with left facial palsy without skin lesions in 60-year-old woman. Multiple ulcers were found on her left soft palate. Polymerase chain reaction analysis on oral mucosa biopsy samples and serologic assays allowed the identification of VZV as the causal agent. Knowledge of the anatomy of the facial nerve is important for oral and maxillofacial surgeons when dealing with patients with RHS, especially in unusual and clinically misleading forms of this syndrome.


Assuntos
Herpesvirus Humano 3/isolamento & purificação , Úlceras Orais/virologia , Transtornos Parkinsonianos/virologia , Doença Aguda , Aciclovir/análogos & derivados , Aciclovir/uso terapêutico , Antivirais/uso terapêutico , Feminino , Glucocorticoides/uso terapêutico , Humanos , Pessoa de Meia-Idade , Úlceras Orais/tratamento farmacológico , Palato Mole , Transtornos Parkinsonianos/tratamento farmacológico , Prednisolona/uso terapêutico , Valaciclovir , Valina/análogos & derivados , Valina/uso terapêutico
SELEÇÃO DE REFERÊNCIAS
Detalhe da pesquisa