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Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy
Javeria Nooraine1, Kemmanu Vasudha, Sribhargava Natesh
1Department of Neurology, Vikram Hospital, Bengaluru, India.
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.
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