Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy.

ABSTRACT: Polymicrogyria is a type of cortical dysplasia with cortical organizational defect. Bilateral polymicrogyria are distinct with genetic basis in a subset. We hereby report a case of bilateral frontal polymicrogyria (BFP) in association with chorioretinal dystrophy and ectopia lentis (EL) in a 26-year-old lady born of a consanguineous parentage. Her male sibling also had chorioretinal dystrophy and EL. This combination of autosomal recessive inheritance has not been reported earlier in the literature and suggests a role of connective tissue genes in BFP.

SUBMITTER: Nooraine J 

PROVIDER: S-EPMC3841628 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature