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

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 pren...

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Veröffentlicht in:Journal of clinical ultrasound 2021-10, Vol.49 (8), p.838-840
Hauptverfasser: Li, Tian‐gang, Ma, Bin, Tie, Hong‐xia, Zhang, Qing‐hua, Hao, Sheng‐ju, Guan, Chong‐li
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Sprache:eng
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Zusammenfassung: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.
ISSN:0091-2751
1097-0096
DOI:10.1002/jcu.23020