Goldenhar综合征  

Goldenhar syndrome

作　　者：查定军 

机构地区：[1]空军军医大学西京医院耳鼻咽喉头颈外科,西安710032

出　　处：《临床耳鼻咽喉头颈外科杂志》2018年第16期1244-1246,共3页Journal of Clinical Otorhinolaryngology Head And Neck Surgery

摘　　要：Goldenhar综合征（Goldenhar syndrome,GS）,又称半侧颜面畸形（hemifacial-microsomia）,或眼-耳-脊柱发育不良（oculo-auriculo-vertbral dysplasia）,是一种先天性遗传缺陷,主要涉及在胚胎发生过程中第一和第二鳃弓结构的改变,临床表现复杂多样,典型特征为耳部发育异常、下颌骨畸形及脊柱发育不良。Goldenhar syndrome is a condition characterized by alterations involving the development of the structures of the first and second branchial arches.The abnormalities primarily affect the face,the eyes,the spine,and the ears,and the auricular abnormalities are associated with possible hearing loss.Here,we present a review of the literature on Goldenhar syndrome,discussing what is known about the clinical phenotype,the aetiology,audiological findings and treatment,in order to provide certain help for people about disease diagnosis,genetic counseling and hearing intervention.

关 键 词：GOLDENHAR综合征 临床表现 病因 遗传咨询 听力 耳畸形 

分 类 号：R764[医药卫生—耳鼻咽喉科]