新生儿常见小耳畸形相关综合征的遗传特征

doi:10.7499/j.issn.1008-8830.2203008

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摘要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。

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	马竞
	周文浩

关键词 ：小耳畸形, 综合征, 遗传学, 新生儿

Abstract：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.

Key words： Microtia Syndrome Genetics Neonate

收稿日期: 2022-03-03

基金资助:国家重点研发计划项目（2021YFC2701001）。

通讯作者: 周文浩，男，教授。Email：zhouwenhao@fudan.edu.cn。 E-mail: zhouwenhao@fudan.edu.cn

作者简介: 马竞，女，博士，副研究；

引用本文:

马竞,周文浩. 新生儿常见小耳畸形相关综合征的遗传特征[J]. 中国当代儿科杂志, 2022, 24(6): 614-619.

MA Jing,ZHOU Wen-Hao. Genetic characteristics of microtia-associated syndromes in neonates[J]. CJCP, 2022, 24(6): 614-619.

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http://www.zgddek.com/CN/10.7499/j.issn.1008-8830.2203008 或 http://www.zgddek.com/CN/Y2022/V24/I6/614

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