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Turkish Journal of Physical Medicine and Rehabilitation
2011 , Vol 57 , Num 2
Bardet-Biedl Syndrome Associated With Brachial Amyotrophy and Cerebral and Cerebellar Atrophy: A Case Report
2 Department of Physical Medicine and Rehabilitation, Bursa Şevket Yılmaz Education and Research Hospital, Bursa, Turkey
3 Fizyomed Physical Medicine and Rehabilitation Center, Ankara, Turkey DOI : 10.4274/tftr.26918
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.
Keywords : Bardet-Biedl syndrome, brachial amyotrophy, cerebellar andcerebral cortical atrophy