Annals of Indian Academy of Neurology
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CASE REPORT
Year : 2013  |  Volume : 16  |  Issue : 4  |  Page : 678-680

Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy


1 Department of Neurology, Vikram Hospital, Bengaluru, India
2 Department of Neuroophthalmology, Narayana Nethralaya, Bengaluru, India

Correspondence Address:
Seetharam Raghavendra
Department of Neurology, Vikram Hospital, Bengaluru - 560 010, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-2327.120473

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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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