Bardet–Biedl syndrome: A case report
Abstract Bardet–Biedl syndrome is a rare autosomal recessive disorder, categorized with ciliopathy (non-motile) disorders, which affect multiple systems. We diagnosed this rare syndrome in an adult male with a history of blindness, who presented with abdominal distension, breathlessness, and renal failure.
Authors
- Prashasti Gupta (ORCID: https://orcid.org/0009-0001-2878-4148)
- Aakash Pandey
- Ramesh Aggarwal (ORCID: https://orcid.org/0000-0002-3854-3321)
- Priya Bansal (ORCID: https://orcid.org/0000-0002-5501-5280)
- M. S. Negi
Institutions
- Lady Hardinge Medical College (IN)
Publication Details
- Journal
- Annals of Medical Science and Research
- Published
- 2025-05-01
- DOI
- https://doi.org/10.4103/amsr.amsr_72_24
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00