1.
Indian Pediatr
; 2013 June; 50(6): 599-601
Artigo
em Inglês
| IMSEAR
| ID: sea-169857
RESUMO
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive condition characterized by retinitis pigmentosa, polydactyly, obesity, learning disabilities, hypogonadism and renal anomalies. Cardiomyopathy in association with BBS has previously being reported only twice in literature. We report a case of a patient presenting with features of cardiomyopathy, who was subsequently diagnosed to have BBS.