PMID- 10063326 OWN - NLM STAT- MEDLINE DCOM- 19990326 LR - 20161124 IS - 0391-1977 (Print) IS - 0391-1977 (Linking) VI - 23 IP - 3 DP - 1998 Sep TI - [A case of familial Bardet-Biedl syndrome (obesity, slight mental retardation, polydactyly, retinitis pigmentosum and renal failure) with insulin-resistant diabetes mellitus]. PG - 83-92 AB - A case of familial Bardet-Biedl syndrome (BBS) in a 64-year-old woman is presented; it is characterized by abdominal obesity (BMI: 38.28; WHR: 0.98), slight mental retardation, polydactyly, pigmentary retinopathy and moderate renal failure, with insulin-resistant diabetes mellitus and severe inflammation of the left limb with necrosis of the last toe (the sixth) of the left foot. Four brothers and sisters of the patient presented the same syndrome. The patient had had healthy offsprings. The review of current literature indicates that BBS is a genetic autosomal recessive disease, formerly grouped with Laurence-Moon-Biedl syndrome but today considered as a separate entity. It is characterized by obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism in males, and renal structural abnormalities or functional impairment. Extra- and intrafamilial variability of expressivity and severity of the various clinical manifestations was reported, among affected families and also in the same family. BBS is a rare but important syndrome, that should be known by the endocrinologist and the specialist in internal medicine, because it has an adverse prognosis, with early onset of blindness, insulin-resistant diabetes mellitus and severe renal impairment. Renal failure is a frequent cause of death early in life, even in the infant-juvenile years. FAU - Iannello, S AU - Iannello S AD - Cattedra di Medicina Interna, Universita degli Studi, Catania Ospedale Garibaldi. FAU - Fagone, S AU - Fagone S FAU - Grasso, G AU - Grasso G FAU - Ierna, D AU - Ierna D FAU - Meli, S AU - Meli S FAU - Pennisi, P AU - Pennisi P FAU - Perrotta, C AU - Perrotta C FAU - Zingali, C AU - Zingali C FAU - Belfiore, F AU - Belfiore F LA - ita PT - Case Reports PT - Journal Article TT - Un caso di sindrome di Bardet-Biedl familiare (obesita, lieve ritardo mentale, polidattilia, retinite pigmentosa ed insufficienza renale) con diabete mellito insulino-resistente. PL - Italy TA - Minerva Endocrinol JT - Minerva endocrinologica JID - 8406505 SB - IM MH - Diabetes Mellitus, Type 1/*physiopathology MH - Female MH - Foot Deformities, Congenital/diagnostic imaging/*physiopathology MH - Humans MH - Intellectual Disability/*physiopathology MH - Kidney Failure, Chronic/*physiopathology MH - Middle Aged MH - Obesity/*physiopathology MH - Radiography MH - Retinitis Pigmentosa/*physiopathology MH - Syndrome EDAT- 1999/03/04 00:00 MHDA- 1999/03/04 00:01 CRDT- 1999/03/04 00:00 PHST- 1999/03/04 00:00 [pubmed] PHST- 1999/03/04 00:01 [medline] PHST- 1999/03/04 00:00 [entrez] PST - ppublish SO - Minerva Endocrinol. 1998 Sep;23(3):83-92.