Bardet Biedl Syndrome

Authors

  • 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

DOI:

https://doi.org/10.3126/jnps.v33i2.7359

Keywords:

Bardet Biedl syndrome, polydactyly

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.

DOI: http://dx.doi.org/10.3126/jnps.v33i2.7359  

J Nepal Paediatr Soc. 2013; 33(2):129-131

Downloads

Download data is not yet available.
Abstract
919
PDF
1015

Author Biographies

Taraknath Ghosh, Burdwan Medical College and Hospital, Burdwan

Associate Professor, Department of Paediatrics

Sangita De, Burdwan Medical College and Hospital, Burdwan

Post Graduate Trainee, Department of Paediatrics

Sananda Pati, Burdwan Medical College and Hospital, Burdwan

Post Graduate Trainee, Department of Paediatrics

Prabhat Kumar, Burdwan Medical College and Hospital, Burdwan

Post Graduate Trainee, Department of Paediatrics

Bhusan Chaki, Burdwan Medical College and Hospital, Burdwan

Post Graduate Trainee, Department of Paediatrics

Downloads

Published

2013-10-07

How to Cite

Ghosh, T., De, S., Pati, S., Kumar, P., & Chaki, B. (2013). Bardet Biedl Syndrome. Journal of Nepal Paediatric Society, 33(2), 129–131. https://doi.org/10.3126/jnps.v33i2.7359

Issue

Vol. 33 No. 2 (2013)

Section

Brief Reports/Case Reports/Case Series

License

Authors who publish with this journal agree to the following terms:

Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.

Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.

Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).