Abstract:
Bardet–Biedl syndrome is a rare autosomal recessive disorder falls
under the spectrum of ciliopathy disorders. Its characterized by
rod-cone dystrophy, renal malformations, postaxial polydactyly, learning
difficulties, central obesity and hypogonadism. Hyponatremia, hepatic
haemangioma, gall bladder stones and subclinical hypothyroidism rarely
described in the literature as clinical presentations in BBS.