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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

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

Nooraine Javeria J Vasudha Kemmanu K Natesh Sribhargava S Iyer Rajesh B RB Raghavendra Seetharam S

Annals of Indian Academy of Neurology 20131001 4

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 literat ...[more]

PMID: 24339607

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