Bardet-Biedl syndrome: A rare case report from North India | Zendy

Jyotisterna Mittal | Zendy; Sumir Kumar | Zendy; BharatB Mahajan | Zendy

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Bardet-Biedl syndrome: A rare case report from North India

Author(s) -

Jyotisterna Mittal,

Sumir Kumar,

BharatB Mahajan

Publication year - 2012

Publication title -

indian journal of dermatology venereology and leprology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.514

H-Index - 45

eISSN - 0973-3922

pISSN - 0378-6323

DOI - 10.4103/0378-6323.93656

Subject(s) - bardet–biedl syndrome , polydactyly , pediatrics , medicine , multidisciplinary team , dystrophy , dermatology , pathology , anatomy , genetics , biology , nursing , gene , phenotype

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

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