Bardet-Biedl Syndrome Diagnosed at an Advanced Age
نویسندگان
چکیده
منابع مشابه
A 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 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...
متن کاملRenal dysplasia in Bardet-Biedl syndrome.
BACKGROUND Bardet-Biedl syndrome (BBS) is a multisystem genetic disorder characterized with central obesity, pigmentary retinopathy, polydactyly, mental retardation, and hypogenitalism. Renal abnormalities have been recognized as a cardinal feature of the disease with serious prognostic implication. The aim of this study was to analyze the renal status in children with BBS and to implement appr...
متن کامل[A case report of Bardet-Biedl syndrome].
The Bardet-Biedl syndrome (BBS) is a rare ciliopathic human autosomal-recessive disorder, affecting multiple organ systems. Kidney abnormalities are a major cause of morbidity and mortality in Bardet-Biedl syndrome.
متن کاملBardet-Biedl Syndrome: A Rare Case Report
The Bardet-Biedl syndrome (BBS) is a rare genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. It presents with varied clinical manifestations like retinitis pigmentosa, post-axial polydactyly, central obesity, mental retardation and renal dysfunction. Other rare manifestations include diabetes mellitus, heart disease, hepatic fibrosis and neuro...
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ژورنال
عنوان ژورنال: Turkiye Klinikleri Journal of Case Reports
سال: 2020
ISSN: 2147-9291
DOI: 10.5336/caserep.2019-70780