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

Tian-Gang LiBin MaHong-Xia TieQing-Hua ZhangSheng-Ju HaoChong-Li Guan
Published in: Journal of clinical ultrasound : JCU (2021)
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.
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