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无汗性外胚层发育不良症(anhidrotic ectodermal dysplasia)是一种发现较早的皮肤结构异常遗传病,其主要表现为患者全身汗腺缺如(或减少),稀毛症和牙齿缺陷。作者在遗传咨询门诊遇见1例女性杂合子患者,并进行了家系调查,现报告如下。
Anhidrotic ectodermal dysplasia is an early detection of genetic abnormalities in the skin structure characterized by absence (or reduction) of systemic sweat glands, hair loss and tooth defects. The author met one case of female heterozygous patients in the genetic counseling clinic and conducted a pedigree investigation. The report is as follows.