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Cockayne's syndrome in two brothers Toshiro Komori 1 , Kyung Hwan Shyn 1 1Department of Ophthalmology, Gifu University School of Medicine pp.403-409
Published Date 1980/3/15
DOI https://doi.org/10.11477/mf.1410208066
  • Abstract
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The main clinical symptoms of the patients who were brothers, aged 7 and 3 years, were: normal birth weight, normal development in the first 2 years of their life followed by an obvious retarded growth and transition into dysproportional dwarf-ism, progeroid face, intracranial calcification, mental retardation, microcephaly, gait disturbance, bone changes and photosentivity.

Ocular manifestations such as retinal degenera-tion without pigmentation, optic atrophy, lens and corneal affection were particularly specific for Cockayne's syndrome.


Copyright © 1980, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 1882-1308 印刷版ISSN 0370-5579 医学書院

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