Case report: Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney.

ABSTRACT: Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefting. Reduced penetrance is manifested in these core features and additional under-recognized features, especially in prenatal cases. Here, we present a fetus with EEC syndrome at 22 weeks gestation, in which the cleft lip and palate and the right polycystic kidney are shown by prenatal ultrasound. A de novo missense mutation of R304W in the TP63 gene is confirmed by whole-exome sequencing associated with EEC syndrome. We further investigate the reported TP63-related prenatal cases and provide a more complete picture of the prenatal phenotypic spectrum about EEC. It illustrates the potential severity of genitour

SUBMITTER: Biwei H 

PROVIDER: S-EPMC9662688 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature