Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review

Detalhes bibliográficos
Autor(a) principal: Andrade, Luis Jesuino de Oliveira
Data de Publicação: 2009
Outros Autores: Andrade, Rafael, França, Caroline Santos, Bittencourt, Alcina Maria Vinhaes
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFBA
Texto Completo: http://www.repositorio.ufba.br/ri/handle/ri/6091
Resumo: p.694-696
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spelling Andrade, Luis Jesuino de OliveiraAndrade, RafaelFrança, Caroline SantosBittencourt, Alcina Maria VinhaesAndrade, Luis Jesuino de OliveiraAndrade, RafaelFrança, Caroline SantosBittencourt, Alcina Maria Vinhaes2012-06-08T18:50:15Z2012-06-08T18:50:15Z2009-090004-2749http://www.repositorio.ufba.br/ri/handle/ri/6091v. 72, n. 5p.694-696Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. The main features are obesity, polydactyly,pigmentary retinopathy, learning disabilities, various degrees of intellectual impairment, hypogonadism, and renal abnormalities. Bardet-Biedl syndrome is both phenotypically and genetically heterogeneous. Clinical diagnosis is based on the presence of 4 of the 5 cardinal features. The authors present a typical case of pigmentary retinopathy due to Bardet-Biedl syndrome and made a brief commentary about the disease’s cardinal manifestations.Submitted by Texeira Ana (atanateixeira@gmail.com) on 2012-06-08T18:50:15Z No. of bitstreams: 1 Andrade, Luis Jesuino de Oliveira.pdf: 479530 bytes, checksum: 1da543dddfccb70135807ab1fa910512 (MD5)Made available in DSpace on 2012-06-08T18:50:15Z (GMT). No. of bitstreams: 1 Andrade, Luis Jesuino de Oliveira.pdf: 479530 bytes, checksum: 1da543dddfccb70135807ab1fa910512 (MD5) Previous issue date: 2009-09São Paulohttp://dx.doi.org/10.1590/S0004-27492009000500019reponame:Repositório Institucional da UFBAinstname:Universidade Federal da Bahia (UFBA)instacron:UFBABardet-Biedl syndromeRetinitis pigmentosaRetinal degenerationHumanFemaleAdolescentCase reportsPigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature reviewArq. Bras. 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dc.title.pt_BR.fl_str_mv Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review
dc.title.alternative.pt_BR.fl_str_mv Arq. Bras. Oftalmol.
title Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review
spellingShingle Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review
Andrade, Luis Jesuino de Oliveira
Bardet-Biedl syndrome
Retinitis pigmentosa
Retinal degeneration
Human
Female
Adolescent
Case reports
title_short Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review
title_full Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review
title_fullStr Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review
title_full_unstemmed Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review
title_sort Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review
author Andrade, Luis Jesuino de Oliveira
author_facet Andrade, Luis Jesuino de Oliveira
Andrade, Rafael
França, Caroline Santos
Bittencourt, Alcina Maria Vinhaes
author_role author
author2 Andrade, Rafael
França, Caroline Santos
Bittencourt, Alcina Maria Vinhaes
author2_role author
author
author
dc.contributor.author.fl_str_mv Andrade, Luis Jesuino de Oliveira
Andrade, Rafael
França, Caroline Santos
Bittencourt, Alcina Maria Vinhaes
Andrade, Luis Jesuino de Oliveira
Andrade, Rafael
França, Caroline Santos
Bittencourt, Alcina Maria Vinhaes
dc.subject.por.fl_str_mv Bardet-Biedl syndrome
Retinitis pigmentosa
Retinal degeneration
Human
Female
Adolescent
Case reports
topic Bardet-Biedl syndrome
Retinitis pigmentosa
Retinal degeneration
Human
Female
Adolescent
Case reports
description p.694-696
publishDate 2009
dc.date.issued.fl_str_mv 2009-09
dc.date.accessioned.fl_str_mv 2012-06-08T18:50:15Z
dc.date.available.fl_str_mv 2012-06-08T18:50:15Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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status_str publishedVersion
dc.identifier.uri.fl_str_mv http://www.repositorio.ufba.br/ri/handle/ri/6091
dc.identifier.issn.none.fl_str_mv 0004-2749
dc.identifier.number.pt_BR.fl_str_mv v. 72, n. 5
identifier_str_mv 0004-2749
v. 72, n. 5
url http://www.repositorio.ufba.br/ri/handle/ri/6091
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.source.pt_BR.fl_str_mv http://dx.doi.org/10.1590/S0004-27492009000500019
dc.source.none.fl_str_mv reponame:Repositório Institucional da UFBA
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