Otomandibular syndrome is primarily characterised by craniofacial microsomia (CFM). Pathogenic loss-of-function variants of the SF3B2 gene, which encodes the U2 subunit of the spliceosome, can cause CFM through a haploinsufficiency mechanism. This study aims to present the clinical phenotype and maxillofacial management of a patient carrying a novel SF3B2 gene variant. We present the case of a patient with a heterozygous de novo pathogenic variant of the SF3B2 gene who presented with an otomandibular syndrome accompanied by progressive camptodactyly of the extremities, which had not been described previously. Particularly low maxillary and mandibular bone density was observed during bimaxillary osteotomy, necessitating adaptation of the surgical protocol. This case expands the phenotypic spectrum of anomalies associated with the SF3B2 gene by indicating potential subclinical acral and bone involvement. It also emphasises the importance of genetic analysis in complex craniofacial malformations.

The definition of the mandibular angle profile is a common challenge for oral and maxillofacial surgeons. Accurate diagnosis and treatment planning are mandatory in order to properly manage soft and hard tissues. The use of several biomaterials is described in the literature. The present paper reports the treatment of a defect in the right mandibular angle in otomandibular syndrome sequelae by positioning polyetheretherketone (PEEK) patient-specific implants (PSI) in a 25-year-old patient who previously underwent orthognathic surgery. Satisfactory aesthetic results were achieved with no complications 12 months after surgery. Considering its advantageous physical properties and the low rate of postoperative complications reported in the literature, PEEK can increase the treatment options for recontouring not only the upper third and the middle third of the face, but also of the lower third, in particular in cases of large three-dimensional defects.

The association between deafness and visual disorders is frequent. These disorders range from simple refractive disorder to severe disease that can lead to disability. Hence the interest of early screening. This study aims to highlight the importance of multidisciplinary management and of the need for ophthalmological examination in each deaf child. We conducted a prospective monocentric data collection from medical records of 200 children followed for hypoacousia from January 2014 to January 2015. Each child underwent complete ophthalmological examination, ENT examination and clinical examination. Data from 155 medical records were collected. Ocular involvement was found in 47 patients, reflecting a rate of 30.4%. Bilateral involvement was found in 45 patients. The main syndromic causes were: Usher syndrome (8 casess), Waardenbourg syndrome (5 cases), Alport syndrome (3 cases), Wolfram syndrome (2 cases), Goldenhar syndrome (3 cases), Cogan syndrome (3 cases), Franceschetti-Kleinsyndrome (1 case), Charge syndrome(1 case), otomandibular syndrome (1 case), Stickler syndrome(1 case), Alström syndrome (1 case), Refsum disease (1 case), Susac syndrome (1 case) and KID Syndrome (1 case). Screening for ocular involvement allowed to shorten the average length of cochlear implantation from 9 months to 3 months. There are numerous ocular and auditory involvements because of the embryological and cellular similarities of these two organs, including the retina and the inner ear. The diagnosis of these involvements is facilitated by the presence of facial dysmorphism; on the other hand, diagnosis is difficult when there are visual and auditory sensorineural involvements. Early diagnosis of ocular and auditory involvements allows for best psychomotor development and optimal social inclusion. Therefore multidisciplinary management is necessary to allow for the best psychomotor, orthophonic and visual rehabilitation. L'association de la surdité aux troubles visuels est fréquente. Ces troubles vont de simple anomalie de la réfraction jusqu'à la maladie grave qui peut constituer un handicap. D'où l'intérêt d'un dépistage précoce. L'objectif de cette étude est de montrer l'importance de la collaboration multidisciplinaire et la nécessité de l'examen ophtalmologique chez chaque enfant présentant une surdité à travers cette étude prospective. Il s'agit d'une étude prospective monocentrique colligeant 200 enfants suivis pour hypoacousie de janvier 2014 à janvier 2015. Chaque enfant a bénéficié d'un examen ophtalmologique complet; examen ORL; et un examen général. Cent cinquante-cinq dossiers ont été colligés. Une atteinte oculaire était constatée chez 47 patients soit 30,4% des enfants. Elle est bilatérale chez 45patients. Les principales étiologies étaient syndromiques (syndrome d'Usher (8cas), syndrome de Waardenbourg (5 cas), syndrome d'Alport (3 cas), syndrome de Wolfram (2 cas), syndrome de Goldenar (3 cas), syndrome de Cogan (3 cas), syndrome de Fracheschetti (1 cas), syndrome de Charge (1 cas), syndrome otomandibulaire (1 cas), syndrome de Stickler (1 cas), syndrome d'Alstrom (1 cas), syndrome de Refsum (1 cas), syndrome de Susac (1 cas) et KID syndrome (1 cas)). Le dépistage de l'atteinte oculaire a permis de raccourcir le délai d'attente pour implant cochléaire de 9 mois à 3 mois. Les atteintes oculo auditives sont très nombreuses du fait de la similitude embryologique et cellulaire de ces deux organes, notamment la rétine et l'oreille interne. Le diagnostic de ces atteintes est facilité par l'existence d'une dysmorphie faciale, en revanche, il reste difficile lorsqu'il existe que les atteintes neurosensorielles visuelles et auditives. La précocité du diagnostic des atteintes oculo auditives permet un meilleur développement psychomoteur et une insertion sociale optimale. Donc la prise en charge pluridisciplinaire précoce est nécessaire afin de permettre la meilleure rééducation psychomotrice, orthophonique et visuelle.