Bardet-Biedl syndrome presented as chronic kidney disease with rare
clinical associations in a Sudanese woman (case report)
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.