Hyperphagia among patients with Bardet-Biedl syndrome
نویسندگان
چکیده
منابع مشابه
Renal transplantation in patients with Bardet-Biedl syndrome.
BACKGROUND Bardet-Biedl syndrome is an autosomal recessive disorder characterized by obesity, polydactyly of hands and feet, retinitis pigmentosa, hypogenitalism, various degrees of intellectual impairment and renal anomalies. Other clinical features include speech disorder, brachydactyly, developmental delay, polyuria/polydipsia, ataxia, poor coordination/clumsiness, diabetes mellitus, left ve...
متن کاملBardet-Biedl Syndrome with End Stage Renal Disease
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 ...
متن کاملA Case of Bardet-Biedl Syndrome
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...
متن کاملLaurence Moon Bardet Biedl Syndrome with anaemia.
Laurence Moon Bardet Biedl Syndrome is a rare genetic disorder. Consanguineous marriage is usually the common cause. Principal features of Bardet Biedl Syndrome are red cone dystrophy, obesity, polydactyl, hypogonadism and renal anomalies. The diagnosis was overlooked in our patient until he came in our hospital. We here report an infrequent case of autosomal recessive disorder with Anaemia.
متن کاملRenal Disease in Bardet-Biedl Syndrome
Laurence-Moon-Bardet -Biedl syndrome is a rare congenital disorder, inherited in the autosomal recessive mode. The syndrome is characterized by five cardinal features, namely obesity (83% of cases), mental retardation (80%), polydactyly (75%), retinitis pigmentosa (68%) and hypogeni tali sm (60%).1 Renal invo lvement wi th progressive deterioration in renal function was recognized as a major ca...
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ژورنال
عنوان ژورنال: Pediatric Obesity
سال: 2013
ISSN: 2047-6302
DOI: 10.1111/j.2047-6310.2013.00182.x