BARDET-BIEDL SYNDROME – CASE PRESENTATION

Abstract

Bardet-Biedl syndrome (autosomal-recessive inheritance) is characterized by obesity, retinal dystrophy, polydactyly and mental retardation. The authors emphasize the necessary steps in order to establish the diagnosis for an infant with overweight, polydactyly and hypogenitalism.

Keywords

• bardet-biedl syndrome
• obesity (overweight)
• polydactyly