Prenatal sonographic diagnosis of X-linked hypohidrotic ectodermal dysplasia: An unusual case

Tian gang Li, Bin Ma, Hong xia Tie, Qing hua Zhang, Sheng ju Hao, Chong li Guan

科研成果: 期刊稿件文章同行评审

3 引用 (Scopus)

摘要

X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare congenital genetic disorder caused by mutations in the ectodysplasin A gene, resulting in dysplasia or complete absence of teeth, hair, and sweat glands. XLHED is rarely diagnosed prenatally. We describe a case of XLHED diagnosed with prenatal sonography and umbilical cord blood gene testing.

源语言英语
页(从-至)838-840
页数3
期刊Journal of Clinical Ultrasound
49
8
DOI
出版状态已出版 - 10月 2021
已对外发布

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