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

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Author(s): Makbule Özge Yıldırım | Canan Çelik | Mine Tezyürek

Journal: Türkiye Fiziksel Tip ve Rehabilitasyon Dergisi
ISSN 1302-0234

Volume: 57;
Issue: suppl-2;
Start page: 345;
Date: 2011;
Original page

Keywords: Bardet-Biedl syndrome | brachial amyotrophy | cerebellar and cerebral cortical atrophy

ABSTRACT
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 Re­hab 2011;57 Suppl 2: 345-7.
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