Tingaud-Sequeira Angèle, Trimouille Aurélien, Sagardoy Thomas, Lacombe Didier, Rooryck Caroline
Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, F-33000 Bordeaux, France.
CHU de Bordeaux, Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, F-33076, Bordeaux, France.
J Med Genet. 2022 May;59(5):417-427. doi: 10.1136/jmedgenet-2021-108219. Epub 2022 Feb 2.
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.
眼-耳-脊椎综合征（OAVS）或戈尔登哈综合征是由于胚胎发育过程中第一和第二鳃弓衍生物的异常发育所致，其特征为半侧颜面短小畸形，并伴有耳部、眼部和脊椎畸形。该综合征具有临床和遗传异质性，外显率不完全且表现度可变，这使得其分子诊断具有难度。迄今为止，仅鉴定出少数复发性拷贝数变异（CNV）和基因是这种复杂疾病的病因。也有产前环境因果因素的假说。然而，大多数患者仍病因不明。在本综述中，我们旨在更新临床诊断标准，并描述遗传和非遗传病因、动物模型以及新型诊断工具和手术管理，以帮助并改善对这些患者及其家庭的临床护理和遗传咨询。
