AUTHOR=Biwei He , Min Su , Yanlin Wang , Xinrong Zhao , Li Gao , Renyi Hua , Jinling Sun , Shan Wang , Yi Wu , Weiwei Cheng TITLE=Case report: Prenatal diagnosis of Ectrodactyly–Ectodermal dysplasia–Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney JOURNAL=Frontiers in Genetics VOLUME=13 YEAR=2022 URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.1002089 DOI=10.3389/fgene.2022.1002089 ISSN=1664-8021 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 genitourinary anomalies in TP63-related disorders and highlights the need to counsel for the possibility of EEC syndrome, given the occurrence of genitourinary anomalies with orofacial cleft or limb deformities.