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 |
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Format: | Artikel |
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. |
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ISSN: | 0091-2751 1097-0096 |
DOI: | 10.1002/jcu.23020 |