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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.