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, 167A (10), 2402-5

Polymicrogyria in a 10-month-old Boy With Mowat-Wilson Syndrome

Case Reports

Polymicrogyria in a 10-month-old Boy With Mowat-Wilson Syndrome

Susan B Murray et al. Am J Med Genet A.


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.

Keywords: Hirschsprung disease; Mowat-Wilson syndrome; ZEB2; polymicrogyria.

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