¨A síndrome de Bardet-Biedl (BBS) é uma desordem autossômica recessiva rara, com heterogeneidade clínica e genética. Esta síndrome foi descrita pela primeira vez por Laurence e Moon em 1866 e outros casos foram descritos por Bardet e Biedl entre 1920 e 1922. As principais características são obesidade centrípeta, polidactilia, retinopatia pigmentar, dificuldades de aprendizagem, graus de deficiência intelectual diversos, hipogonadismo e anomalias renais. Síndrome de Bardet-Biedl é fenotipicamente e geneticamente heterogêneos. O diagnóstico clínico baseia-se na presença de quatro dos cinco sinais principais da síndrome. É necessário para o diagnóstico quatro critérios maiores (alterações visuais, polidactilia, obesidade e/ou baixa estatura), distúrbios cognitivos, doença renal e hipogonadismo) ou três critérios menores (fibrose hepática, hipertrofia ventricular esquerda, cardiopatia congênita, diabetes melito, distúrbio da fala e voz, anormalidades dentárias, diabetes insípido nefrogênico, atraso no desenvolvimento, estrabismo/catarata/astigmatismo e braquidactilia/sindactilia) associados a dois critérios maiores. Um ou mais dos achados acima que caracterizam a síndrome podem estar ausentes, mas a distrofia retiniana é achado consistente. Esta se manifesta clinicamente na infância com progressiva perda visual, causando grave dificuldade visual na adolescência. Atualmente é considerada uma entidade distintada síndrome de Laurence-Moon-Bied¨

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by Dr Paulo Fernando Leite

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