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[眼-耳-脊椎综合征的病因学研究进展]

[The etiology research progress of oculo-auriculo-vertebral spectrum].

作者信息

Wang Pu, Fan Yue, Chen Xiaowei

出版信息

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2015 Dec;29(24):2184-8.

Abstract

Oculo-auriculo-vertebral spectrum (OAVS), also known as Goldenhar syndrome, hemifacial microsomia, oculo-auriculo-vertebral dysplasia and facio-auriculo-vertebral spectrum, is a developmental disorder associated with the first and second branchial arches. Most cases are sporadic, while some familial instances observed suggested that the etiology of OAVS heterogeneous. In this review, we summarize the OAVS epidemiology, classification and mainlyheterogeneous etiology.

摘要

眼-耳-脊椎综合征(OAVS),也称为Goldenhar综合征、半侧颜面短小畸形、眼-耳-脊椎发育不全和面-耳-脊椎综合征,是一种与第一和第二鳃弓相关的发育障碍。大多数病例为散发性,而观察到的一些家族性病例表明OAVS的病因是异质性的。在本综述中,我们总结了OAVS的流行病学、分类及主要的异质性病因。

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