Bardet-biedl syndrome: A case report from Nepal
DOI:
https://doi.org/10.3126/ajms.v12i8.38262Keywords:
Bardet biedl syndrome, Polydactyly, Retinitis pigmentosa, ObesityAbstract
The Bardet–Biedl syndrome (BBS) is a rare ciliopathic autosomal-recessive disorder, with multiple organ systems involvement. It is usually seen in family with consanguinous marriage. It is characterized by truncal obesity, polydactyly, retinal dystrophy, mental retardation, renal dysfunction and hypogonadism in males. It affects both males and females. Very few cases are reported in Nepal. Here we report a 30 year obese lady who presented to our center with history of excessive weight gain and blindness with polydactyly. She visited many local medical centers before landing to our hospital.
Downloads
412
324
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2021 Asian Journal of Medical Sciences
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Authors who publish with this journal agree to the following terms:
- The journal holds copyright and publishes the work under a Creative Commons CC-BY-NC license that permits use, distribution and reprduction in any medium, provided the original work is properly cited and is not used for commercial purposes. The journal should be recognised as the original publisher of this work.
- 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).
