Journal of Clinical and Diagnostic Research, ISSN - 0973 - 709X

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Case report
Year : 2013 | Month : September | Volume : 7 | Issue : 9 | Page : 2010 - 2011

Bardet Biedel Syndrome: A Very Rare Entity in India

Rupal V. Dosi , Nikita R. Bhatt, Annirudh P. Ambaliya, Nitin N. Sonune, Rushad D. Patell

1. Additional Professor, Medical College Baroda and Sayaji General Hospital, Vadodara, India. 2. Intern, Medical College Baroda and Sayaji General Hospital, Vadodara, India. 3. Assistant Professor, Medical College Baroda and Sayaji General Hospital, Vadodara, India. 4. Post graduate Student, Medical College Baroda and Sayaji General Hospital, Vadodara, India. 5. Senior Resident, Medical College Baroda and Sayaji General Hospital, Vadodara, India.

Correspondence Address :
Dr. Rushad Patell,
32 Alka Society, Akota, Vadodara-390020, India
Email: rushadpatell@gmail.com

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.

Keywords

Bardet Biedel Syndrome, Retinitis pigmentosa, Obesity

How to cite this article :

Rupal V. Dosi , Nikita R. Bhatt, Annirudh P. Ambaliya, Nitin N. Sonune, Rushad D. Patell. BARDET BIEDEL SYNDROME: A VERY RARE ENTITY IN INDIA. Journal of Clinical and Diagnostic Research [serial online] 2013 September [cited: 2018 Feb 24 ]; 7:2010-2011. Available from
http://jcdr.in/back_issues.asp?issn=0973-709x&year=2013&month=September&volume=7&issue=9&page=2010-2011&id=3388

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DOI and Others

DOI: 10.7860/JCDR/2013/5684.3388

Financial OR OTHER COMPETING INTERESTS: None.

Date of Submission: Jan 18, 2013
Date of Peer Review: May 16, 2013
Date of Acceptance: May 24, 2013
Date of Publishing: Sept 10, 2013

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