Muscle Eye Brain Disease; a Rare Form of Syndromic Congenital Muscular Dystrophy
- Author:
Gosal Gurinder S
;
Shah Hitesh H
- Publication Type:Journal Article
- Keywords:
Congenital Muscular Dystrophy;
Muscle eye brain Disease;
Walker Warburg Syndrome;
Fukuyama Congenital Muscular Dystrophy
- MeSH:
Orthopaedic
- From:Malaysian Orthopaedic Journal
2011;5(1):67-70
- CountryMalaysia
- Language:English
-
Abstract:
Congenital muscular dystrophy (CMD) is a heterogeneous group of disorders characterized by muscular hypotonia since birth and the histologic features of muscular dystrophy. Syndromic congenital muscular dystrophies are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, lissencephaly, and eye anomalies. We present a case of a rare form of syndromic congenital muscular dystrophy in an eight year old girl, born of firstdegree consanguinity. She had: global develop
- Full text:W020160107566372312446.pdf
