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Bardet biedel syndrome: a very rare entity in India
Rupal V Dosi1, Nikita R Bhatt, Annirudh P Ambaliya
1Additional Professor, Medical College Baroda and Sayaji General Hospital , Vadodara, India .
Abstract:
Bardet Biedel Syndrome (BBS) is a rare autosomal recessive disease which is characterized by obesity, retinitis pigmentosa, polydactyly, neuro-developmental retardation and renal defects amongst others. It is a genetically heterogeneous ciliopathic disorder with inter and intra familial variations. Very few cases have been reported from India. We are reporting here a case of an adolescent girl who was diagnosed at the age of 16, with additional features of insulin resistance and non-alcoholic fatty liver disease. A review of recent literature and a short discussion on the care and management of this uncommon condition follow.
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