Artificial intelligence-based diagnosis in fetal pathology using external ear shapes.

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.

Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.

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.

Latissimus dorsi free flap reconstruction of a temporal defect following pediatric oncologic surgery: Case report + literature review.

INTRODUCTION: Rhabdomyosarcoma (RMS) is the most common soft-tissue sarcoma in children and adolescents. Around 35 % of pediatric sarcomas occur in the head and neck region. Consequently, RMS is considered the most common type of childhood malignancy diagnosed in this region. OBSERVATION: We report the clinical case of a 6 years old patient, who presented a large temporal hollowing following oncological excision surgery for temporal rhabdomyosarcoma. He underwent surgical reconstruction to fill the right temporalis fossa using a latissimus dorsi muscle free flap micro-anastomosed to the lingual vessels. DISCUSSION: This clinical case highlights the value of plastic surgery in oncological reconstruction, which, combined with a multidisciplinary and collective approach, enables a holistic approach and facilitates socio-psychological integration after oncological surgery in the pediatric population.

AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes.

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.

Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition.

Hemifacial myohyperplasia (HFMH) is a rare cause of facial asymmetry exclusively involving facial muscles. The underlying cause and the mechanism of disease progression are unknown. Here, we identified a somatic gain-of-function mutation of PIK3CA in five pediatric patients with HFMH. To understand the physiopathology of muscle hypertrophy in this context, we created a mouse model carrying specifically a PIK3CA mutation in skeletal muscles. PIK3CA gain-of-function mutation led to striated muscle cell hypertrophy, mitochondria dysfunction, and hypoglycemia with low circulating insulin levels. Alpelisib treatment, an approved PIK3CA inhibitor, was able to prevent and reduce muscle hypertrophy in the mouse model with correction of endocrine anomalies. Based on these findings, we treated the five HFMH patients. All patients demonstrated clinical, esthetical, and radiological improvement with proof of target engagement. In conclusion, we show that HFMH is due to somatic alteration of PIK3CA and is accessible to pharmacological intervention.

Biallelic truncating variants in VGLL2 cause syngnathia in humans.

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.

Craniofacial growth and function in achondroplasia: a multimodal 3D study on 15 patients.

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.

Imaging Factors Affecting Prenatal Counseling in Orofacial Clefts.

INTRODUCTION: We aim to correlate pre- and postnatal data regarding the cleft type and surgical prognostic factors associated to orofacial clefts. METHODS: Retrospective study concerning all cases of orofacial cleft evaluated prenatally (US+/-MRI) between 2015 and 2020 with available postnatal outcomes. We compared prenatal imaging (cleft type and surgical prognostic factors) with postnatal findings. RESULTS: 48 fetuses were included. Median gestational age at first US/MRI examination: 29+2 WG and 31+6 WG, respectively. The prenatal diagnosis was in accordance with postnatal findings with regard to the cleft type in 88% of the cases (n = 42/48) for US and/or MRI, 84% (n = 38/45) for US only, and 90% (n = 37/41) for MRI only. The nasal septum deviation and nostril collapse were underestimated by prenatal US in 48% (n = 12/25) and 44% (n = 11/25) of cases, respectively (Cohen's kappa of 0.22 and 0.32, respectively). Pre- and postnatal examinations were in accordance with 75% of cases (n = 8) regarding evaluation of anteroposterior maxillary shift in case of unilateral alveolar cleft and in 90% and 80% of cases (n = 10) regarding the degree of protrusion/deviation of the premaxillary protrusion in case of bilateral cleft, respectively. CONCLUSION: Prenatal imaging can accurately assess the type of orofacial cleft and evaluate maxillary shift and deviation of the premaxilla. It underestimates the nose deformity.

An automatic facial landmarking for children with rare diseases.

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.

The First Hybrid International Educational Comprehensive Cleft Care Workshop.

OBJECTIVE: Describe the first hybrid global simulation-based comprehensive cleft care workshop, evaluate impact on participants, and compare experiences based on in-person versus virtual attendance. DESIGN: Cross-sectional survey-based evaluation. SETTING: International comprehensive cleft care workshop. PARTICIPANTS: Total of 489 participants. INTERVENTIONS: Three-day simulation-based hybrid comprehensive cleft care workshop. MAIN OUTCOME MEASURES: Participant demographic data, perceived barriers and interventions needed for global comprehensive cleft care delivery, participant workshop satisfaction, and perceived short-term impact on practice stratified by in-person versus virtual attendance. RESULTS: The workshop included 489 participants from 5 continents. The response rate was 39.9%. Participants perceived financial factors (30.3%) the most significant barrier and improvement in training (39.8%) as the most important intervention to overcome barriers facing cleft care delivery in low to middle-income countries. All participants reported a high level of satisfaction with the workshop and a strong positive perceived short-term impact on their practice. Importantly, while this was true for both in-person and virtual attendees, in-person attendees reported a significantly higher satisfaction with the workshop (28.63 ± 3.08 vs 27.63 ± 3.93; P = .04) and perceived impact on their clinical practice (22.37 ± 3.42 vs 21.02 ± 3.45 P = .01). CONCLUSION: Hybrid simulation-based educational comprehensive cleft care workshops are overall well received by participants and have a positive perceived impact on their clinical practices. In-person attendance is associated with significantly higher satisfaction and perceived impact on practice. Considering that financial and health constraints may limit live meeting attendance, future efforts will focus on making in-person and virtual attendance more comparable.

Parental and Child Diagnosis Storytelling and Self-Image in French Children With Cleft lip With or Without Cleft Palate.

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.

Injuries and child abuse increase during the pandemic over 12942 emergency admissions.

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.

Evaluation of prenatal breastfeeding workshop to inform and support mother with antenatal diagnosis of cleft lip/palate.

INTRODUCTION: To support mother with antenatal diagnosis of cleft lip/palate (CL/P), we implement an antenatal breastfeeding workshop to promote breastfeeding and its continuation. The aim of this study was to evaluate patient satisfaction after this workshop and efficiency of this workshop on breastfeeding rates and duration. MATERIALS AND METHODS: We conducted a prospective study from February 2018 to April 2022. Patients received two surveys after the workshop and after birth, to evaluate their satisfaction. A prospective breastfeeding follow-up were pursued by email, at 1-3-6 and 12 months to determine if the breastfeeding had been continued or stopped. RESULTS: We included 124 pregnant women who participated to the workshop. After the workshop, most participants (114/124) answered to the first survey. Amongst the 114 participants who answered to the first survey, 45 participated to a face-to-face workshop; and 69 to a teleworkshop. Participants were globally satisfied or very satisfied from the workshop; and felt more capable to breastfeed their child. 95/124 participants answered to the second survey. Most of the participants considered that the workshop had help them carry on a maternal milk feeding to their child Breastfeeding was pursued 1 month at 90%, 3 months at 62.5%, 6 months at 41.9%, after 6 months at 18.4%. Duration of breastfeeding were not statistically different, depending on the cleft type(p = 0.022). CONCLUSION: The prenatal information helped the future mothers and met their requests and needs. The satisfaction rate reflected the importance of informing and supporting mothers in their feeding choices for their infants. The rate of breastfeeding at birth of a cleft-infant, whatever its type, for mothers who participated in the breastfeeding workshop, was over 90%.

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.

Unique or multiple congenital facial skin polyps are features of several rare syndromes, from the most well-known Pai syndrome (PS), to the less recognized oculoauriculofrontonasal syndrome (OAFNS), encephalocraniocutaneous lipomatosis (ECCL), or Sakoda complex (SC). We set up a research project aiming to identify the molecular bases of PS. We reviewed 27 individuals presenting with a syndromic frontonasal polyp and initially referred for PS. Based on strict clinical classification criteria, we could confirm only nine (33%) typical and two (7%) atypical PS individuals. The remaining ones were either OAFNS (11/27-41%) or presenting with an overlapping syndrome (5/27-19%). Because of the phenotypic overlap between these entities, OAFNS, ECCL, and SC can be either considered as differential diagnosis of PS or part of the same spectrum. Exome and/or genome sequencing from blood DNA in 12 patients and from affected tissue in one patient failed to identify any replication in candidate genes. Taken together, our data suggest that conventional approaches routinely utilized for the identification of molecular etiologies responsible for Mendelian disorders are inconclusive. Future studies on affected tissues and multiomics studies will thus be required in order to address either the contribution of mosaic or noncoding variation in these diseases.

Growth charts in FGFR2- and FGFR3-related faciocraniosynostoses.

Objective: Faciocraniosynostoses (FCS) are malformations affecting the development of the bones of the skull and face, due to the premature closure of one or more craniofacial sutures, mostly secondary to activating Fibroblast Growth Factor Receptor (FGFR) 1-3 mutations. Gain-of-function FGFR3 mutations are also responsible for various conditions referred to as osteochondrodysplasia (OCD), characterized by structural and functional abnormalities of growth plate cartilages. We hypothesized that patients with FGFR-related faciocraniosynostoses may present extra-cranial growth anomalies. Study design: We retrospectively collected height and weight data from a cohort of 70 patients. Included patients were admitted for FGFR-related FCS between 2000 and 2021 at the Craniofacial Unit of Necker - Enfants Malades University Hospital in Paris, France. Results: We showed that FGFR-related faciocraniosynostoses had significantly reduced heights and weights relative to controls, and that two specific time periods (1-3 years and > 8 years of age) were associated with lower height and weight values. Four patients had received growth hormone treatment but remained below normal values for growth in height and weight. Conclusions: Patients with FGFR-related faciocraniosynostoses have clinically significant extra-cranial anomalies which are not currently investigated and managed in usual protocols; these patients could benefit from a systematic pre-pubertal endocrine assessment. More generally, our results extend the scope of extracranial anomalies in FGFR-related faciocraniosynostoses and support the hypothesis that all conditions with activating FGFR mutations affect both membranous ossification and long bones.

Criteria for early and late velopharyngoplasty in 61 children with cleft palate.

BACKGROUND: Velopharyngeal insufficiency persists in 15 to 30% of children with cleft palate, despite early velar surgery. Pharyngoplasty using a superior pedicle flap is the most common secondary surgery to treat velopharyngeal insufficiency. This study aims to identify the criteria leading to indicate velopharyngoplasty in 3 groups of age. MATERIALS AND METHODS: we conducted a retrospective single center study in the reference center for cleft palate in Paris from 2013 to 2016. We included 61 children with non-syndromic cleft operated on with a velopharyngoplasty for velopharyngeal insufficiency. Pre-operative speech and surgical assessments, as well as the operative reports of the children, were analyzed retrospectively using multivariate models. RESULTS: We included 61 patients. The only criteria factor for an early velopharyngoplasty was the Pittsburgh Weighted Speech Scale (PWSS) score (OR 1.20, CI 95% 1.07 to 1.4 ; P=.006). Criteria for a late velopharyngoplasty were a degradation of the velopharyngeal function (OR 16.07, CI 95% 1.7 to 518.7 ; P=.041) and lost of follow-up (OR 5.78, CI 95% 3.9 to 4320 ; P=.017). CONCLUSION: Criteria for early and late velopharyngoplasty were identified, and we demonstrated the insufficiency of Borel-Maisonny classification for scientific clinical study.

Head and neck Ewing sarcoma: French surgical practice analysis pleads for surgery centralization.

This study aimed to analyze surgical procedures for head and neck Ewing sarcoma (HNES) with regard to oncological, functional, and esthetic outcomes. A blinded multidisciplinary retrospective chart review of operated French HNES patients (Euro-EWING 99 trial, 1999-2014) was performed to assess patient/tumor characteristics, treatment details, and outcomes. Primary surgery without reconstruction was undertaken in 13 patients (emergency context/misdiagnosis). However, because of contaminated surgical margins, all patients had to undergo systematic postoperative radiotherapy. Twenty-six patients underwent multidisciplinary evaluation and were scheduled to undergo postchemotherapy surgery, with 19 patients scheduled for immediate reconstruction. All cases showed R0 margins after postchemotherapy surgery of the initial tumor bed by multidisciplinary surgical teams, while n = 3/4 of local relapses (very poor prognosis) had R1a margins after surgery of the residual tumor volume following chemotherapy. Only three surgical expertise centers operated on ≥ 4 patients over the 15-year period. Thirty patients developed long-term sequelae, with increased complications following radiotherapy. Referring patients to surgical expertise centers following a suspected diagnosis, with planned postchemotherapy surgery of the initial tumor bed at these centers, might limit the need for intralesional resections, allowing radical R0 resections and thus reducing long-term sequelae as well as the risk of secondary radio-induced malignancy by limiting the need for postoperative radiotherapy.

Commissuroplasty for macrostomia: surgical technique and long-term aesthetic and functional results assessment.

BACKGROUND: Macrostomia or lateral cleft lip is a rare congenital deformity. In this article we describe a surgical technique of macrostomia repair developed. The objective of this article is to assess the results of our surgical technique and to validate a method for macrostomia surgical result evaluation. METHODS: We included retrospectively patients with unilateral and bilateral macrostomia, operated from 1995 to 2014 in our department. First part of the study was a satisfaction questionnaire completed by patients. The second part was subjective evaluation of frontal photography (closed mouth, wide open and smiling) by surgeons and lay people with a questionnaire. Both group completed a second questionnaire within one to six months. RESULTS: Eighteen patients answered the questionnaire. The satisfaction for all patients were considered as very good for 38.9% (n = 7) of patients and good for 44.4% (n = 8). 21 patients were photographed, 5 isolated macrostomia, 13 macrostomia with minor facial asymmetry and 3 with a major asymmetry. Surgeons evaluated the result as very good for isolated macrostomia and good for syndromic macrostomia. Layperson evaluated the result as good in isolated macrostomia and macrostomia with minor facial asymmetry and average with major facial asymmetry. P < 0.0001. The evolution of the results between medical and non-medical assessors in our two questionnaires, were non-significant. CONCLUSION: In this study, we propose a new methodology to assess commissuroplasty surgical results, with a 3 type of evaluator: patients, surgeons and laypeople. We present a simple surgical technique, that allows good results in syndromic and isolated macrostomia.

Incidence of New-Onset Obstructive Sleep Apnea After Posterior Flap Pharyngoplasty in Children.

INTRODUCTION: Obstructive sleep apnea (OSA) is a well-recognized complication of velopharyngeal insufficiency (VPI) surgery, but studies assessing OSA by means of a respiratory polygraphy (PG) are scarce. The aim of the study was to evaluate the incidence of new-onset OSA after posterior flap pharyngoplasty (PFP). MATERIALS: The postoperative PG of children with VPI who had a normal preoperative PG were analyzed. RESULTS: Eighteen patients (mean age, 9.8 ± 4.8 years; Pierre Robin sequence [n = 5], isolated cleft palate [n = 7], 22q11 deletion [n = 3], and 3 other diagnoses) were included in the study. Mean delay between surgery and the postoperative PG was 11.5 ± 13.5 months. Two patients (11%) developed severe OSA after PFP. One patient with 22q11 deletion developed overt OSA symptoms immediately after surgery with an apnea-hypopnea index (AHI) of 39 events per hour, requiring continuous positive airway pressure (CPAP) therapy. Obstructive sleep apnea improved spontaneously after 10 months, with an AHI of 2 events/h after CPAP weaning. The second patient had a cleft palate associated with a fetal alcohol syndrome and developed OSA symptoms after surgery with an AHI of 18 events/h requiring CPAP therapy. He could be weaned from CPAP 6 months later after a complete section of the pharyngeal flap with an AHI of 6 events/h during spontaneous breathing. CONCLUSIONS: New-onset OSA after PFP in children with VPI who had a normal preoperative PG was uncommon (11%) in the present cohort.

Dental and orthodontic follow-up in nevoid basal cell carcinoma syndrome patient with odontogenic keratocystic tumors.

OBJECTIVES: Nevoid Basal Cell Carcinoma Syndrome (NBCS) is a rare genetic condition affecting multiple organs including the maxillofacial and dental region. The surgical removal of the odontogenic keratocystic tumors (OKT), the high rate of recurrence leads to a iatrogenic tooth loss requiring dental care. The aim of this study is therefore to describe the dental and orthodontic management, and to assess the impact of surgery on facial growth and oral development. METHODS: A retrospective study including 14 patients with GGS, followed at the Necker Enfants Malades Hospital. The study was carried out on the medical files and photographic records RESULTS: Patients developed on average 5.5 OKT (range: 1 to 11) and 1.7 recurrences (range:0 to 9) during the follow-up. The mean age at diagnosis of first OKT was 11.23 years (range: 6.75 to 16). KOTs were more frequently localized at the mandibular (30.9%) and maxillary molar level (25.1%). Forty-seven impacted teeth were extracted during the OKT removal. Eight patients out of 12 presented a class III skeletal relationship. The remaining ones had a skeletal class II associated with a hyperdivergent typology. Almost all patients had dental impactions with ectopic positions of the succedaneums tooth. At the inter-arch level, all patients needed orthodontic care, 3 patients did not begin their orthodontics. Orthodontic treatments began with an orthopedic phase followed by braces for the majority in 8 patients. Two patients had to undergo orthognathic surgery. Impacted teeth were treated by traction or extraction with further rehabilitation. CONCLUSION: The objective is not to simply compensate the iatrogenic hypodontia generated by the surgical procedure but to take into consideration the maxillofacial phenotype, skeletal characteristics and numerous intra- and inter-arch dental anomalies for a healthy oral management.