Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review
Autor(a) principal: | |
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Data de Publicação: | 2009 |
Outros Autores: | , , |
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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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 |
format |
article |
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publishedVersion |
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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 |
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eng |
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eng |
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info:eu-repo/semantics/openAccess |
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openAccess |
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http://dx.doi.org/10.1590/S0004-27492009000500019 |
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