Mowat-Wilson syndrome (MWS) is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene rarely diagnosed prenatally and with little fetal description reported. It is mainly characterized by moderate-to-severe intellectual disability, epilepsy, facial dysmorphism and various malformations including Hirschsprung disease and corpus callosum anomalies. Here we report a fetal case of MWS well described, suspected at standard autopsy. The association of a corpus callosum hypoplasia with a histological Hirschsprung disease and a typical facial gestalt allowed the guiding of genetic testing. Classical fetopathological examination still keeps indications in cases of syndromic association in the era of virtual autopsy.
Mowat - Wilson syndrome ( MWS ) is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene rarely diagnosed prenatally and with little fetal description reported . It is mainly characterized by moderate - to - severe intellectual disability , epilepsy , facial dysmorphism and various malformations including Hirschsprung disease and corpus callosum anomalies . Here we report a fetal case of MWS well described , suspected at standard autopsy . The association of a corpus callosum hypoplasia with a histological Hirschsprung disease and a typical facial gestalt allowed the guiding of genetic testing . Classical fetopathological examination still keeps indications in cases of syndromic association in the era of virtual autopsy .
Which gene is responsible for the development of the Mowat-Wilson syndrome?
Which gene is responsible for the development of the Mowat - Wilson syndrome ?
ZEB2
ZFHX1B ZEB2 SIP-1