Ma Jing, Zhou Wen-Hao
Department of Facial Plastic and Reconstructive Surgery, Eye Ear Nose and Throat Hospital of Fudan University, Shanghai 200031, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2022 Jun 15;24(6):614-619. doi: 10.7499/j.issn.1008-8830.2203008.
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.
小耳畸形是新生儿中第二常见的颌面出生缺陷，在中国的患病率为3.06/10000，并且20%-60%的小耳畸形病例与某种综合征相关。本文阐述了三种患病率高、耳部畸形发生率高且遗传病因明确的小耳畸形相关综合征（MASs），即眼-耳-脊椎谱、鳃-耳-肾谱障碍和特雷彻-柯林斯综合征的临床表型和遗传特征，并总结了另外三种常见的MASs，以便为新生儿MAS的基因诊断提供参考。
