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metadata.dc.type: | Artigo de Periódico |
Título : | Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review |
Otros títulos : | Arq. Bras. Oftalmol. |
Autor : | Andrade, Luis Jesuino de Oliveira Andrade, Rafael França, Caroline Santos Bittencourt, Alcina Maria Vinhaes |
metadata.dc.creator: | Andrade, Luis Jesuino de Oliveira Andrade, Rafael França, Caroline Santos Bittencourt, Alcina Maria Vinhaes |
Resumen : | Bardet-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. |
Palabras clave : | Bardet-Biedl syndrome Retinitis pigmentosa Retinal degeneration Human Female Adolescent Case reports |
URI : | http://www.repositorio.ufba.br/ri/handle/ri/6091 |
Fecha de publicación : | sep-2009 |
Aparece en las colecciones: | Artigo Publicado em Periódico (Faculdade de Medicina) |
Ficheros en este ítem:
Fichero | Descripción | Tamaño | Formato | |
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Andrade, Luis Jesuino de Oliveira.pdf | 468,29 kB | Adobe PDF | Visualizar/Abrir |
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