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- Title
(2) Cockayne's syndrome.
- Authors
Murphy, G. M.; Norris, P. G.; Hawk, J. L. M.
- Abstract
This article presents the case study of a patient with Cockayne's syndrome. This patient was born of non-consanguineous parents and has a normal sister. She had a normal delivery, but was hypoxic and required resuscitation after birth. Early development was unremarkable, but she was slow to stand and walk and was noticeably ataxic by 2 years of age. Since then her hearing and vision have gradually diminished, and she requires a wheelchair because of increasing ataxia. Menarche occurred at 9 and normal secondary sexual characteristics are present. The diagnosis has been substantiated by demonstrating increased sensitivity of cultured fibroblasts to UV irradiation and impaired RNA and DNA synthesis following inhibition by UV irradiation, in the presence of normal DNA repair and sister chromatid exchange.
- Subjects
SYNDROMES; HYPOXEMIA; FIBROBLASTS; CRITICAL care medicine; BIOCHEMICAL genetics; CHROMOSOME replication
- Publication
British Journal of Dermatology, 1988, Vol 119, p62
- ISSN
0007-0963
- Publication type
Article
- DOI
10.1111/j.1365-2133.1988.tb05405.x