Bardet Biedel Syndrome: A
Very Rare Entity in India
Published: September 1, 2013 | DOI: https://doi.org/10.7860/JCDR/2013/.3388
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
Dr. Rushad Patell,
32 Alka Society, Akota, Vadodara-390020, India
Email: rushadpatell@gmail.com
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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