title: 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.
authors: Department of Neurology, Vikram Hospital, Bengaluru, India.
authors: Javeria
authors: J
authors: Nooraine
authors: Kemmanu
authors: K
authors: Vasudha
authors: Sribhargava
authors: S
authors: Natesh
authors: Rajesh B
authors: RB
authors: Iyer
authors: Seetharam
authors: S
authors: Raghavendra
keywords: Autosomal recessive; chorioretinal-dystrophy; ectopia lentis; frontal-polymicrogyria