中华医学杂志（英文版）2012，Vol.125Issue(17)：3177-3179,3.DOI:10.3760/cma.j.issn.0366-6999.2012.17.039
Prenatal diagnosis of anhidrotic ectodermal dysplasia with unconventional loci abnormalities: a case report
Prenatal diagnosis of anhidrotic ectodermal dysplasia with unconventional loci abnormalities: a case report
CHEN Lian 1ZHAO Yang-yu 1WEI Yuan 1WANG Yan 1ZHANG Yan 1WANG Yong-qing 1LIU Jian-ying 2YANG Yong 3TAN Yan-hong3
作者信息
- 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
- 折叠
摘要
Abstract
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 bioosv under fetoscopy in mid pregnancy,combined with a review of the literature.关键词
prenatal diagnosis/ ectodermal dysplasia/ fetoscopyKey words
prenatal diagnosis/ ectodermal dysplasia/ fetoscopy引用本文复制引用
CHEN Lian,ZHAO Yang-yu,WEI Yuan,WANG Yan,ZHANG Yan,WANG Yong-qing,LIU Jian-ying,YANG Yong,TAN Yan-hong..Prenatal diagnosis of anhidrotic ectodermal dysplasia with unconventional loci abnormalities: a case report[J].中华医学杂志（英文版）,2012,125(17):3177-3179,3.
