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Muscle involvement in the cerebro-oculo-facio-skeletal syndrome

Longman, C; Sewry, CA; Muntoni, F; (2004) Muscle involvement in the cerebro-oculo-facio-skeletal syndrome. PEDIATR NEUROL , 30 (2) 125 - 128. 10.1016/S0887-8994(03)00415-6.

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Abstract

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. (C) 2004 by Elsevier Inc. All rights reserved.

Type: Article
Title: Muscle involvement in the cerebro-oculo-facio-skeletal syndrome
DOI: 10.1016/S0887-8994(03)00415-6
Keywords: COCKAYNE-SYNDROME, COFS SYNDROME, GENE
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Developmental Neurosciences Prog
URI: http://discovery.ucl.ac.uk/id/eprint/54293
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