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Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease
  1. Angèle Tingaud-Sequeira1,
  2. Aurélien Trimouille1,2,
  3. Thomas Sagardoy3,
  4. Didier Lacombe1,2,
  5. Caroline Rooryck1,2
  1. 1Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, F-33000 Bordeaux, France
  2. 2CHU de Bordeaux, Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, F-33076, Bordeaux, France
  3. 3CHU de Bordeaux, Service d'oto-rhino-laryngologie, de chirurgie cervico-faciale et d'ORL pédiatrique, 33076 Bordeaux, France
  1. Correspondence to Dr Caroline Rooryck, Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, Université bordeaux, Bordeaux, France; caroline.rooryck-thambo{at}


Oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome is due to an abnormal development of first and second branchial arches derivatives during embryogenesis and is characterised by hemifacial microsomia associated with auricular, ocular and vertebral malformations. The clinical and genetic heterogeneity of this spectrum with incomplete penetrance and variable expressivity, render its molecular diagnosis difficult. Only a few recurrent CNVs and genes have been identified as causatives in this complex disorder so far. Prenatal environmental causal factors have also been hypothesised. However, most of the patients remain without aetiology. In this review, we aim at updating clinical diagnostic criteria and describing genetic and non-genetic aetiologies, animal models as well as novel diagnostic tools and surgical management, in order to help and improve clinical care and genetic counselling of these patients and their families.

  • human genetics
  • disorders of environmental origin
  • genetic heterogeneity
  • genetics

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  • Correction notice This article has been corrected since it was published online first. The name of author Caroline Rooryck has been corrected.

  • Contributors AT-S, AT, TS, DL and CR-T cowrote the manuscript.

  • Funding This work was supported by the ANR (Agence Nationale pour la Recherche, ANR-12-JVS1-0002) and the Fondation Maladies Rares.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.