Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy
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...
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doaj-f179cce536dd49559954335cefb504472020-11-24T22:51:26ZengWolters Kluwer Medknow PublicationsAnnals of Indian Academy of Neurology0972-23271998-35492013-01-0116467868010.4103/0972-2327.120473Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophyJaveria NooraineKemmanu VasudhaSribhargava NateshRajesh B IyerSeetharam RaghavendraPolymicrogyria 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.http://www.annalsofian.org/article.asp?issn=0972-2327;year=2013;volume=16;issue=4;spage=678;epage=680;aulast=NooraineAutosomal recessivechorioretinal-dystrophyectopia lentisfrontal-polymicrogyria |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Javeria Nooraine Kemmanu Vasudha Sribhargava Natesh Rajesh B Iyer Seetharam Raghavendra |
spellingShingle |
Javeria Nooraine Kemmanu Vasudha Sribhargava Natesh Rajesh B Iyer Seetharam Raghavendra Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy Annals of Indian Academy of Neurology Autosomal recessive chorioretinal-dystrophy ectopia lentis frontal-polymicrogyria |
author_facet |
Javeria Nooraine Kemmanu Vasudha Sribhargava Natesh Rajesh B Iyer Seetharam Raghavendra |
author_sort |
Javeria Nooraine |
title |
Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy |
title_short |
Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy |
title_full |
Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy |
title_fullStr |
Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy |
title_full_unstemmed |
Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy |
title_sort |
autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy |
publisher |
Wolters Kluwer Medknow Publications |
series |
Annals of Indian Academy of Neurology |
issn |
0972-2327 1998-3549 |
publishDate |
2013-01-01 |
description |
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. |
topic |
Autosomal recessive chorioretinal-dystrophy ectopia lentis frontal-polymicrogyria |
url |
http://www.annalsofian.org/article.asp?issn=0972-2327;year=2013;volume=16;issue=4;spage=678;epage=680;aulast=Nooraine |
work_keys_str_mv |
AT javerianooraine autosomalrecessivebilateralfrontalpolymicrogyriawithectopialentisandchorioretinaldystrophy AT kemmanuvasudha autosomalrecessivebilateralfrontalpolymicrogyriawithectopialentisandchorioretinaldystrophy AT sribhargavanatesh autosomalrecessivebilateralfrontalpolymicrogyriawithectopialentisandchorioretinaldystrophy AT rajeshbiyer autosomalrecessivebilateralfrontalpolymicrogyriawithectopialentisandchorioretinaldystrophy AT seetharamraghavendra autosomalrecessivebilateralfrontalpolymicrogyriawithectopialentisandchorioretinaldystrophy |
_version_ |
1725669708851576832 |