We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Bardet-Biedl Syndrome Associated With Brachial Amyotrophy and Cerebral and Cerebellar Atrophy: A Case Report.
- Authors
YILDIRIM, Makbule Özge; ÇELİK, Canan; TEZYÜREK, Mine
- 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.
- Subjects
BRAIN diseases
- Publication
Turkish Journal of Physical Medicine & Rehabilitation / Turkiye Fiziksel Tip ve Rehabilitasyon Dergisi, 2011, p345
- ISSN
1302-0234
- Publication type
Article
- DOI
10.4274/tftr.26918