Article

BARDET-BIEDL SYNDROME

2016-12-19

Abstract excerpt

Bardet-Biedl syndrome is extremely rare in India. This case report deals with this rare entity. In our case report, we are describing an 11-year-old girl with cardinal symptoms of Bardet-Biedl syndrome as described in literature like Retinitis Pigmentosa, Obesity, Polydactyly, Brachydactyly and Mental Retardation. A diagnosis of Bardet-Biedl syndrome was suggested by clinical findings and confirmed by genetic study.

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Literature Corpus work: de690fac-3122-5ad1-afa2-5ac809c86e0d
DOI: 10.14260/jemds/2016/1686

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