Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.

Diagnostic wandering and delayed management are major issues in rare diseases. Here, we report a new Next-Generation Phenotyping (NGP) model for diagnosing Coffin Siris syndrome (CSS) on clinical photographs among controls and distinguish the different genotypes. This retrospective and prospective study, conducted from 1998 to 2023, included frontal and lateral pictures of confirmed CSS.

Does the type of cleft have an impact on language results? Validation of the Nasalance test in French.

Objectives: The nasometer is the most widely used tool for objective assessment of phonation in both research and clinical practice. French standards have been validated in cases of total cleft lip and palate. The objective of this research is to propose a second validation study on velopalatal clefts.

Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum.

Oculo-auriculo-vertebral spectrum (OAVS) is characterized by abnormal development of the 1st and 2nd branchial arches. Despite arguments against a monogenic condition, a few genes have been involved in a minority of cases. We now report heterozygous, presumably loss-of function variants in the CHAF1A gene in 8 individuals, including 3 members of the same family.

Management of sleep-disordered breathing in patients with syndromic hemifacial macrosomia.

Purpose: Patients with syndromic hemifacial microsomia (SHFM) are at risk of obstructive sleep apnea (OSA). The aim of the study was to describe the prevalence of OSA and its management, especially in patients with Goldenhar syndrome (GS).

Methods: The respiratory polygraphies and clinical management of 15 patients, aged 2 to 23 years, evaluated at a national reference center, were analyzed.

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.

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.

Biallelic truncating variants in 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Growth charts in - and -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 () 1-3 mutations. Gain-of-function 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 -related faciocraniosynostoses may present extra-cranial growth anomalies.

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.

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).

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.

Quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patients.

Background: Pierre Robin sequence (PRS) is a heterogeneous condition involving retro(micro)gnathia, glossoptosis and upper airway obstruction, very often with posterior cleft palate. Patients with PRS, either isolated or associated with Stickler syndrome have good intellectual prognosis. Nevertheless, the quality of life in adolescence and the phonatory and morphological outcomes are rarely analysed.