Bardet-Biedl syndrome and hepatosplenomegaly: A case report of a rare presentation

Abstract

Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder of the primary cilia with plenty of clinical manifestations secondary to the involvement of multiple organs, and difficult to diagnose. We describe an atypical case of an obese patient with metabolic syndrome and hepatosplenomegaly diagnosed with BBS after genome sequencing.