Prenatal diagnosis of anhidrotic ectodermal dysplasia with unconventional loci abnormalities： a case report  

作　　者：CHEN Lian ZHAO Yang-yu WEI Yuan WANG Yan ZHANG Yan WANG Yong-qing LIU Jian-ying YANG Yong TAN Yan-hong 

机构地区：[1]Department of Obstetrics and Gynecology , Peking University Third Hospital, Beijing 100191, China [2]Department of Pathology, Peking University Third Hospital, Beijing 100191, China [3]Department of Dermatology, Peking University First Hospital, Beijing100034, China

出　　处：《Chinese Medical Journal》2012年第17期3177-3179,共3页中华医学杂志（英文版）

摘　　要：Anhidrotic ectodermal dysplasia （EDA） is a relatively rare congenital hereditary disease. Because of a reduced number of sweat glands, patients are unable to perspire and consequently suffer from hyperthermia and infection. This is a potential cause of death in childhood. Domestic prenatal diagnosis methods focus on genetic diagnosis. But for some conditions, because of the uncertain molecular pathology, we need other methods to assist to in prenatal diagnosis. Here, we report one case of a new mutation locus which may be associated with EDA and the prenatal diagnosis of EDA by fetal skin biopsy under fetoscopy in mid pregnancy, combined with a review of the literature.Anhidrotic ectodermal dysplasia （EDA） is a relatively rare congenital hereditary disease. Because of a reduced number of sweat glands, patients are unable to perspire and consequently suffer from hyperthermia and infection. This is a potential cause of death in childhood. Domestic prenatal diagnosis methods focus on genetic diagnosis. But for some conditions, because of the uncertain molecular pathology, we need other methods to assist to in prenatal diagnosis. Here, we report one case of a new mutation locus which may be associated with EDA and the prenatal diagnosis of EDA by fetal skin biopsy under fetoscopy in mid pregnancy, combined with a review of the literature.

关 键 词：prenatal diagnosis ectodermal dysplasia FETOSCOPY 

分 类 号：R714.5[医药卫生—妇产科学]