Abstract
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.
Original language | English |
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Pages (from-to) | 838-840 |
Number of pages | 3 |
Journal | Journal of Clinical Ultrasound |
Volume | 49 |
Issue number | 8 |
DOIs | |
State | Published - Oct 2021 |
Externally published | Yes |
Keywords
- prenatal diagnosis
- sonography
- tooth germ
- X-linked hypohidrotic ectodermal dysplasia