一名患有无汗性外胚层发育不良杂合子的女婴出现无乳头症。
Athelia in a female infant - heterozygous for anhidrotic ectodermal dysplasia.
作者信息
Burck U, Held K R
出版信息
Clin Genet. 1981 Feb;19(2):117-21. doi: 10.1111/j.1399-0004.1981.tb00680.x.
Abstract
The case of a female infant with athelia is reported. Her mother, maternal aunt and grandmother show hypodontia, sparse hair and small breasts associated with mammillary hypoplasia. The clinical features and the results of MINOR's sweat test suggest a heterozygous state of anhidrotic ectodermal dysplasia as the most likely explanation.
摘要
报告了一名患有无汗症的女婴病例。她的母亲、姨妈和祖母均表现出牙齿发育不全、头发稀疏以及伴有乳头发育不全的小乳房。临床特征和米诺尔氏汗液试验结果表明，最可能的解释是无汗性外胚层发育不良的杂合状态。
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