新生儿常见小耳畸形相关综合征的遗传特征北大核心CSCD

小耳畸形是新生儿第二大颌面部出生缺陷,在我国的发病率为3.06/10 000,20%~60%的小耳畸形与某种类型综合征相关。该文重点论述发病率高、耳畸形发生率高、遗传学病因明确的3大小耳畸形相关综合征(microtia-associated syndromes,MAS),即眼-耳-脊椎畸形谱系、鳃-耳-肾谱系疾病及Treacher Collins综合征的临床表型及遗传学病因,并概述另外3种相对常见的MAS,旨在为新生儿MAS的遗传学诊断提供参考。

Genetic characteristics of microtia-associated syndromes in neonates

Microtia is the second most common maxillofacial birth defect in neonates and has an prevalence rate of 3.06/10 000 in China, and 20%-60% of microtia cases is associated with a certain type of syndrome. This article elaborates on the clinical phenotypes and genetic characteristics of three microtia-associated syndromes (MASs) with high prevalence, high incidence rate of ear deformity, and definite genetic etiology, i.e., oculo-auriculo-vertebral spectrum, branchio-oto-renal spectrum disorder, and Treacher-Collins syndrome, and summarizes another three common MASs, so as to provide a reference for the genetic diagnosis of neonatal MAS.