bardet-biedl syndrome (bbs) is one of the rare autosomal recessive disorders that affect multiple organs of the body. the signs and symptoms of this condition vary among affected individuals, even among members of the same family. we present a case of bbs with features of hypogonadism and features such as marked central obesity, retinitis pigmentosa, polydactyly, renal abnormalities and mental ...

Bardet-Biedl syndrome (BBS) is one of the rare autosomal recessive disorders that affect multiple organs of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. We present a case of BBS with features of hypogonadism and features such as marked central obesity, retinitis pigmentosa, polydactyly, renal abnormalities and mental ...

Etemadi K1, Khazaii MR2 1. MSC of Human Genetic, Molecular Medicine and Genetic department, Medical school, Hamadan University of medical sciences. 2. Assistant professor of Pediatric Urology Abstract Background: The Bardet Biedl syndrome is a heterogenous and autosomal recessive disorder. Primary features are: retinitis pigmentosa, obesity, polydactyly, mental retardation, renal abnorm...

Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare, genetically heterogeneous, autosomal recessive disorder characterized by early onset retinitis pigmentosa, post axial polydactyly, central obesity, mental retardation, hypogonadism and kidney structural abnormalities or functional impairment.1 We report here a typical case of Laurence-Moon-Bardet-Biedl syndrome in an eleven-year old boy wit...

Kostas Sombolos, Mavrokordatou 17, GR-546 45 Thessaloniki (Greece) Dear Sir, Although many hereditary renal diseases have been described in association with retinitis pigmentosa [1,2], the combination of adult polycystic kidney disease and retinitis pigmentosa has not yet been reported. We herein report the first case of retinitis pigmentosa in an adult patient with polycystic kidney disease wh...

Bardet-Biedl syndrome (BBS) is one of the rare autosomal recessive disorders that affect multiple organs of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. We present a case of BBS with features of hypogonadism and features such as marked central obesity, retinitis pigmentosa, polydactyly, renal abnormalities and mental ...

conclusions dialysis with cool dialysate is a simple and cheap nondrug method, which was readily accepted by the patients. this method could significantly reduce the severity of pruritus in patients during dialysis. results before the intervention, there was no significant between-group difference in the severity of pruritus (p < 0.05). after the intervention, the severity of pruritus was signi...

AN adult onset novel disorder of peroxisomal function is described, characterised by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism. The defect results in accumulation of pristanic acid, and the bile acid intermediates, dihydroxycholestanoic and trihydroxycholestanoic acid, and is due to a deficiency of alpha-methyl...