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

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

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 languageEnglish
Pages (from-to)838-840
Number of pages3
JournalJournal of Clinical Ultrasound
Volume49
Issue number8
DOIs
StatePublished - Oct 2021
Externally publishedYes

Keywords

  • prenatal diagnosis
  • sonography
  • tooth germ
  • X-linked hypohidrotic ectodermal dysplasia

Fingerprint

Dive into the research topics of 'Prenatal sonographic diagnosis of X-linked hypohidrotic ectodermal dysplasia: An unusual case'. Together they form a unique fingerprint.

Cite this