Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.

ABSTRACT:

Purpose

Mowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency of the ZEB2 gene. To date, no characteristic pattern of brain dysmorphology in MWS has been defined.

Methods

Through brain magnetic resonance imaging (MRI) analysis, we delineated a neuroimaging phenotype in 54 MWS patients with a proven ZEB2 defect, compared it with the features identified in a thorough review of published cases, and evaluated genotype-phenotype correlations.

Results

Ninety-six percent of patients had abnormal MRI results. The most common features were anomalie

SUBMITTER: Garavelli L 

PROVIDER: S-EPMC5438871 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature