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.