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Polymicrogyria in a 10‐month‐old boy with Mowat–Wilson syndrome
Author(s) -
Murray Susan B.,
Spangler Brooke B.,
Helm Benjamin M.,
Vergano Samantha Schrier
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37171
Subject(s) - polymicrogyria , microcephaly , intellectual disability , medicine , magnetic resonance imaging , pediatrics , psychiatry , radiology
Mowat‐Wilson syndrome (MWS, OMIM# 235730) is a multiple congenital anomaly disorder characterized by intellectual disability, seizures, microcephaly, and distinct facial features. Additional findings include structural brain abnormalities, eye defects, congenital heart defects, Hirschsprung disease (HSCR), and genitourinary anomalies. It is caused by de novo heterozygous mutations or deletions of the ZEB2 gene on chromosome 2q21–q23. We report here on a 10‐month‐old boy with typical features of MWS who presented with the novel finding of polymicrogyria on brain magnetic resonance imaging. We also review the current literature regarding central nervous system anomalies in MWS. © 2015 Wiley Periodicals, Inc.