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Bardet-Biedl syndrome: A rare case report from North India.
MedLine Citation:
PMID:  22421669     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
The Bardet-Biedl syndrome (BBS) is a rare ciliopathic human autosomal-recessive disorder, affecting multiple organ systems. Less than 15 cases have been reported from India. The authors present a classical case of BBS presenting to dermatology outpatient with hypogonadism and features such as marked central obesity, retinal dystrophy, polydactyly, structural renal abnormalities and mental retardation, along with a brief review of the literature. This case exemplifies the need for multidisciplinary management in such cases.
Authors:
Sumir Kumar; Bharat B Mahajan; Jyotisterna Mittal
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Indian journal of dermatology, venereology and leprology     Volume:  78     ISSN:  0973-3922     ISO Abbreviation:  Indian J Dermatol Venereol Leprol     Publication Date:  2012 Mar 
Date Detail:
Created Date:  2012-03-16     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7701852     Medline TA:  Indian J Dermatol Venereol Leprol     Country:  India    
Other Details:
Languages:  eng     Pagination:  228     Citation Subset:  IM    
Affiliation:
Department of Skin and Veneral Diseases, G.G.S. Medical College, Faridkot, Punjab, India.
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