Recurrent structural malformations identified among Mowat–Wilson syndrome fetuses

Abstract

What's already known about this topic? Mowat–Wilson syndrome (MWS) (OMIM#235730) is a genetic disease caused by mutations or deletions of the ZEB2 gene and characterized by typical facial dysmorphism. It is rarely diagnosed prenatally.What does this study add? We report and review the ultrasound features of MWS fetuses identified by array comparative genomic hybridization study. The MWS should be considered in fetuses with increased nuchal translucency, ACC, hypospadias, and congenital heart defect. The prevalence of MWS in Hong Kong is reported.