Ectodermal dysplasia (ED) refers to a group of congenital disorders which causes defects in the ectodermal layers. This condition is primarily inherited in an X-linked recessive fashion, though certain diseases can also be inherited in an autosomal recessive and X-linked dominant manner. Although around 150 different types of ED are currently known, the most common disorders are classified as hypohidrotic or hidrotic based on the involvement of sweat glands. Diagnosis is often based on fetal genetic testing combined with family history.
It is also speculated that prenatal ultrasound can help diagnose the condition; however, there exist very scanty evidences to support this hypothesis. Here we present a rare case of fetal ED with an X-linked recessive inheritance pattern diagnosed via prenatal ultrasound and amniocentesis. Case presentation: 30-year-old female: Gravida 4, para 1 21…
