Bardet-Biedl Syndrome With Renal, Cardiac, and Genitourinary Malformations: A Case Report

Bardet-Biedl syndrome (BBS), also known as Laurence-Moon-Bardet-Biedl syndrome, is a unique autosomal recessive genetic disorder that involves multiple organ systems with an incidence under 1/100,000 in Europe and the USA. We present a case of a 27-year-old male with BBS and a past medical history of hypertension. He was diagnosed with BBS when he was a child. His physical examination showed polydactyly in the feet. His renal ultrasound showed the left kidney with a double collecting system and measured 1.9 × 6.1 × 3.6 cm and extended from the left upper quadrant to the left lower quadrant. His CT of the abdomen showed a horseshoe-shaped kidney with right moiety. Renal abnormalities in BBS have been identified recently. BBS is also associated with various cardiac manifestations such as patent ductus arteriosus, cardiomyopathies, and valvular diseases. BBS requires multidisciplinary management and a close follow-up with a nephrologist to decrease morbidity and mortality. Genetic and molecular mapping of this disorder will aid the understanding of congenital renal ciliopathies.