Erratum: Bardet-Biedl syndrome: A rare genetic disease.
نویسندگان
چکیده
Primary clinical features Retinitis pigmentosa (rod-cone dystrophy) Obesity Polydactyly Hypogonadism Intellectual disability/cognitive impairment Renal abnormalities Secondary clinical features Diabetes mellitus type II Cardiovascular problems Hearing loss Speech deficiency Behavioral problems Craniofacial dysmorphism Short stature Hepatic involvement Eye abnormalities Ataxia Dental and palatal abnormalities Anosmia Hirschsprung disease Journal of Pediatric Genetics 2 (2013) 171 DOI 10.3233/PGE-13057 IOS Press 171
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...
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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 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...
متن کاملManaging Bardet–Biedl Syndrome—Now and in the Future
Bardet-Biedl syndrome is a rare autosomal recessive multisystem disorder caused by defects in genes encoding for proteins that localize to the primary cilium/basal body complex. Twenty-one disease-causing genes have been identified to date. It is one of the most well-studied conditions in the family of diseases caused by defective cilia collectively known as ciliopathies. In this review, we pro...
متن کاملPolydactyly and obesity - the clinical manifestation of ciliopathy: a boy with Bardet-Biedl syndrome.
UNLABELLED The prevalence of obesity in children is still rising all over the world. The most common reason for significant weight gain is a high-calorie diet and decreased physical activity. However, apart from environmental factors, genetic predisposition plays a crucial role in the pathomechanism of obesity. We present the case of a boy with pathological obesity and Bardet-Biedl syndrome (BB...
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ورودعنوان ژورنال:
- Journal of pediatric genetics
دوره 2 3 شماره
صفحات -
تاریخ انتشار 2013