Abstract：
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.
摘要：
眼耳椎骨频谱（OAVS）或Goldenhar综合征是由于胚胎发育过程中第一和第二分支弓衍生物的异常发育，其特征是与耳廓相关的半面微缩肌，眼和脊椎畸形。该光谱的临床和遗传异质性具有不完全的外显率和可变的表达能力，使其分子诊断变得困难。到目前为止，只有少数复发性CNV和基因被鉴定为这种复杂疾病的病因。还假设了产前环境因素。然而,大多数患者仍然没有病因。在这次审查中,我们的目标是更新临床诊断标准，描述遗传和非遗传病因，动物模型以及新的诊断工具和手术管理，以帮助和改善这些患者及其家人的临床护理和遗传咨询。
