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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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.

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	MA Jing
	ZHOU Wen-Hao

Key words： Microtia Syndrome Genetics Neonate

Received: 03 March 2022

Cite this article:

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

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