Journal article

A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening

CJ Ellaway, N Badawi, L Raffaele, J Christodoulou, H Leonard

CLINICAL DYSMORPHOLOGY | LIPPINCOTT WILLIAMS & WILKINS | Published : 2001

Abstract

Rett syndrome (RTT) is a severe neurodevelopmental disorder. Apparently normal at birth, girls with RTT undergo developmental regression and acquire a neurological and behavioural phenotype that has been used to define clinical diagnostic criteria for the disorder. Recently mutations in the methyl-CpG binding protein 2 gene (MECP2), located on Xq28 have been identified in females with RTT. We report a girl whose clinical course was complicated by congenital abnormalities of the respiratory tract and gastrointestinal system. In addition neurological abnormalities were evident in the newborn period. By the age of 3 years she had developed a phenotype very suggestive of RTT, but had not demonst..

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