title: [Oto-mandibular dysplasias: genetics and nomenclature of syndromes].
abstract: Otomandibular dysplasia are characterised by a combination of anomalies of the ear and the mandible. From the surgical point of vue, facial dysostosis is prominent and focus the attention. For the geneticist it is a group of different entities, familial or sporadic. Familial history, detailed clinical examination looking for extra-facial associated malformations, characteristics of the facial dysostosis, unilaterality or bilaterality and biological or radiological findings allow sometimes to identify a known syndrome. A bilateral and symetric dysostosis with predominant zygomatic and malar hypoplasia suggest the diagnosis of Treacher-Collins or Franceschetti syndrome or mandibulofacial dysostosis, particularly in the presence of positive familial history. Acral anomalies associated with facial dysostosis allow the distinction between Treacher-Collins syndrome and acrofacial dysostosis (Nager and Miller syndromes). Unilateral and bilateral asymmetrical anomalies, namely facioauriculovertebral syndrome, hemifacial microsomia, otomandibular dysostosis, no. 7 cleft, first branchial arch syndrome, Goldenhar syndrome were lumping together by Gorlin in 1990, who proposed to use the term "oculoauriculovertebral spectrum". This classification is the first step before genetic studies, who need homogeneous group of patients. Lastly recurrence risk can be evaluated and genetic counselling can be done only if a precise genetic diagnosis is known.
authors.affiliation: Unité de génétique médicale, hôpital Trousseau, 75012 Paris, France.
authors.forename: L
authors.initials: L
authors.lastname: Burglen
authors.forename: V
authors.initials: V
authors.lastname: Soupre
authors.forename: P A
authors.initials: PA
authors.lastname: Diner
authors.forename: M
authors.initials: M
authors.lastname: Gonzalès
authors.forename: M P
authors.initials: MP
authors.lastname: Vazquez
mesh_terms: D002648:Child; D002675:Child, Preschool; D004423:Ear / Q000002:abnormalities* / Q000601:surgery; D005124:Eye Abnormalities / Q000235:genetics*; D006801:Humans; D007223:Infant; D008342:Mandibulofacial Dysostosis / Q000235:genetics* / Q000601:surgery; D013577:Syndrome; D009626:Terminology as Topic
vernacular_title: Dysplasies oto-mandibulaires: génétique et nomenclature des formes syndromiques.