Navegando por Palavras-chave "Bardet-Biedl syndrome"

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    Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review
    (Conselho Brasileiro de Oftalmologia, 2009-10-01) Andrade, Luis Jesuino De Oliveira; Andrade, Rafael [UNIFESP]; França, Caroline Santos; Bittencourt, Alcina Vinhaes; Universidade Estadual de Santa Cruz Faculdade de Medicina; Universidade Federal de São Paulo (UNIFESP); Universidade Federal da Bahia Hospital Universitário Prof. Edgard Santos Serviço de Oftalmologia; UFBA
    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.