Laurence-Moon-Bardet-Biedl Syndrome: Fortuitous Diagnosis in an Atopic Child

Abstract

Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. It is characterized by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, and hypogonadism. It is one of the few rare genetic diseases which can be diagnosed easily on a clinical basis and does not rely on laboratory investigations and genetic analysis for the diagnosis. We report a case of an adolescent boy who presented to us primarily for atopic dermatitis, who had typical features of LMBBS which had been overlooked till he came to our hospital.