Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. It is a congenital ciliopathy that has primary and secondary characteristics. Primary clinical features include rod-cone dystrophy, polydactyly, central obesity, genital abnormalities and mental retardation often presenting as learning difficulties. Secondary clinical features include developmental delay, speech deficit, brachydactyly/syndactyly, dental defects, ataxia, olfactory deficit, diabetes mellitus (DM) and congenital heart disease. BBS patients are friendly with a happy predisposition. Proper management, and regular examinations should be done in order to maintain healthy organ function and to avoid an early death. Renal failure is the most common cause of mortality in BBS patients.This case report illustrates the evaluation of a child with BBS, as well as the unique association of otolaryngologic symptoms and bronchopneumonia with it.
Keywords: bardet-biedl syndrome; bronchopneumonia; ciliopathy; hearing loss; obesity.
Copyright © 2019, Mahmood et al.