TITLE

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

AUTHOR(S)
YILDIRIM, Makbule Özge; ÇELİK, Canan; TEZYÜREK, Mine
PUB. DATE
October 2011
SOURCE
Turkish Journal of Physical Medicine & Rehabilitation / Turkiye ;Oct2011 Supplement, p345
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
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.
ACCESSION #
74553396

 

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