Document Detail


Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy.
MedLine Citation:
PMID:  24339607     Owner:  NLM     Status:  PubMed-not-MEDLINE    
Abstract/OtherAbstract:
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:
Javeria Nooraine; Kemmanu Vasudha; Sribhargava Natesh; Rajesh B Iyer; Seetharam Raghavendra
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Annals of Indian Academy of Neurology     Volume:  16     ISSN:  0972-2327     ISO Abbreviation:  Ann Indian Acad Neurol     Publication Date:  2013 Oct 
Date Detail:
Created Date:  2013-12-16     Completed Date:  2013-12-16     Revised Date:  2013-12-19    
Medline Journal Info:
Nlm Unique ID:  101273955     Medline TA:  Ann Indian Acad Neurol     Country:  India    
Other Details:
Languages:  eng     Pagination:  678-80     Citation Subset:  -    
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