Bardet-Biedl Syndrome Associated With Brachial Amyotrophy and Cerebral and Cerebellar Atrophy: A Case Report

Bardet-Biedl syndrome is an autosomal recessive disorder characterized by rod-cone dystrophy of the retina, mental retardation, obesity, polydactyly and hypogonadism, as well as renal abnormalities. Laurence-Moon syndrome, as a distinct entity, is rare and the features include spastic paraplegia in the absence of polydactyly, obesity, and renal involvement, though cranial symptoms are very unusual. We aimed to report a patient who exhibited characteristic features of Bardet-Biedl syndrome in addition to brachial amyotrophy, and cerebellar and cerebral cortical atrophy. Turk J Phys Med Re-hab 2011;57 Suppl 2: 345-7.