Rare cause of pediatric obesity: Bardet - Biedl Syndrome

Abstract

Bardet - Biedl syndrome (BBS) is a rare autosomal recessive disorder, characterized by central obesity, retinal pigmentation, polydactyly, mental retardation, hypogonadism, and renal dysfunction. Other features may include deafness, diabetes mellitus, genitourinary abnormalities, short stature, hormonal abnormalities, developmental defects, and speech problems. We report a case of BBS who presented with night blindness, marked central obesity, polydactyly, syndactyly, hypogonadism, micropenis, and behavioral problems, along with a brief review of the literature.