分子遺伝医学

Mowat Wilson Syndrome - Expanding the Phenotype by Mutation ZEB2: A Case Report of a Rare Entity and Literature Review

Abstract

Danielly Viana Monteiro Santos*, Danilo Tokechi Amaral, Nathalia Teixeira Hatano, Leonardo Furtado Freitas, Catherine Marx and Lazaro Luis Faria do Amaral

Mowat-Wilson Syndrome (MWS) is a syndrome with multiple congenital abnormalities first clinically delineated by Mowat DR, et al. in 1998. All affected patients exhibit typical dysmorphic features in association with severe intellectual disability and most have microcephaly and seizures. Congenital anomalies such as Hirschsprung disease, congenital heart disease, hypospadias, genitourinary malformations, corpus callosum agenesis and short stature are also common. There is no consensus on clinical diagnostic criteria, but MWS should be suspected in individuals with the aforementioned clinical features and head imaging findings. We report a full-term male newborn with microcephaly, congenital megacolon, hypospadias, facial dysmorphism and heart defect. Thus, MWS was suspected and later confirmed by a mutation analysis of the ZEB2 gene.