Document Detail

Muscle involvement in the cerebro-oculo-facio-skeletal syndrome.
MedLine Citation:
PMID:  14984906     Owner:  NLM     Status:  MEDLINE    
We report a 14-year-old male, born to consanguineous parents, with microcephaly, intracranial calcification, severe mental retardation, cataracts, optic atrophy, pigmentary retinopathy, contractures, scoliosis, and failure to thrive. His brain imaging revealed extensive basal ganglia calcifications. He has normal ultraviolet sensitivity. These features are consistent with the autosomal recessive cerebro-oculo-facio-skeletal syndrome. In addition, he has severe muscle weakness with end-stage muscle changes on biopsy. There have been few reports of muscle involvement in cerebro-oculo-facio-skeletal syndrome, and this is the first time it has been described in a cerebro-oculo-facio-skeletal patient with normal ultraviolet sensitivity. This case extends the extensive phenotypic similarities between cerebro-oculo-facio-skeletal syndrome patients with and without abnormal ultraviolet sensitivity, and highlights the cerebro-oculo-facio-skeletal syndrome in the differential diagnosis of congenital muscular dystrophies.
Cheryl Longman; Caroline A Sewry; Francesco Muntoni
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Pediatric neurology     Volume:  30     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2004 Feb 
Date Detail:
Created Date:  2004-02-26     Completed Date:  2004-04-21     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  125-8     Citation Subset:  IM    
Dubowitz Neuromuscular Centre, Hammersmith Campus, Imperial College, London, W12 ONN, UK.
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MeSH Terms
Cockayne Syndrome / complications,  pathology*
Mental Retardation / complications,  pathology
Microcephaly / complications,  pathology
Muscular Atrophy / complications,  pathology
Muscular Dystrophy, Facioscapulohumeral / complications,  pathology*

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