外显率
戈登哈综合征
半颜面微粒症
遗传咨询
病因学
表现力
疾病
生物信息学
医学
遗传学
生物
病理
基因
外科
颅面
表型
作者
Angèle Tingaud‐Sequeira,Aurélien Trimouille,T. Sagardoy,Didier Lacombe,Caroline Rooryck
标识
DOI:10.1136/jmedgenet-2021-108219
摘要
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.
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