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

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.

Keywords: X-linked hypohidrotic ectodermal dysplasia; prenatal diagnosis; sonography; tooth germ.