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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Autores principales: Nooraine, Javeria, Vasudha, Kemmanu, Natesh, Sribhargava, Iyer, Rajesh B., Raghavendra, Seetharam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841628/
https://www.ncbi.nlm.nih.gov/pubmed/24339607
http://dx.doi.org/10.4103/0972-2327.120473
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author Nooraine, Javeria
Vasudha, Kemmanu
Natesh, Sribhargava
Iyer, Rajesh B.
Raghavendra, Seetharam
author_facet Nooraine, Javeria
Vasudha, Kemmanu
Natesh, Sribhargava
Iyer, Rajesh B.
Raghavendra, Seetharam
author_sort Nooraine, Javeria
collection PubMed
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.
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spelling pubmed-38416282013-12-11 Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy Nooraine, Javeria Vasudha, Kemmanu Natesh, Sribhargava Iyer, Rajesh B. Raghavendra, Seetharam Ann Indian Acad Neurol Case Report 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. Medknow Publications & Media Pvt Ltd 2013 /pmc/articles/PMC3841628/ /pubmed/24339607 http://dx.doi.org/10.4103/0972-2327.120473 Text en Copyright: © Annals of Indian Academy of Neurology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Nooraine, Javeria
Vasudha, Kemmanu
Natesh, Sribhargava
Iyer, Rajesh B.
Raghavendra, Seetharam
Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy
title 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_short Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy
title_sort autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841628/
https://www.ncbi.nlm.nih.gov/pubmed/24339607
http://dx.doi.org/10.4103/0972-2327.120473
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