Beyond the Extra Digit: A Rare Case of Bardet-biedl Syndrome in a 12-Year-Old with Polydactyly, Obesity and Vision Loss
Asha Prakash Mohapatra, Pratyus Patra & Ipsita Mohapatra · Asian Journal of Pediatric Research · 2025
Bardet-Biedl Syndrome (BBS) is a rare multisystem ciliopathy with autosomal recessive inheritance and genetic heterogeneity, characterised by retinal degeneration, post axial polydactyly, renal disease, hypogonadism, central obesity, several dysmorphic features and variable degre...
Open access
Research Article
10.9734/ajpr/2025/v15i5444