Publication: Bardet Biedl Syndrome
Date
2013
Journal Title
Journal ISSN
Volume Title
Publisher
Nepal Paediatric Society (JNPS)
Abstract
Abstract:
This is a case report of Bardet-Biedl syndrome, diagnosed in a 8 year old girl presented with obesity. She had polydactyly, mild mental retardation, retinitis pigmentosa in both eyes, with hypoplastic uterus, fallopian tube and ovaries. She was born to a consanguinous marriage and had a family member with same features.
Description
Taraknath Ghosh
Burdwan Medical College and Hospital, Burdwan
Sangita De
Burdwan Medical College and Hospital, Burdwan
Sananda Pati
Burdwan Medical College and Hospital, Burdwan
Prabhat Kumar
Burdwan Medical College and Hospital, Burdwan
Bhusan Chaki
Burdwan Medical College and Hospital, Burdwan
Keywords
Bardet Biedl syndrome, polydactyly