A Case of Cockayne Syndrome. |
Jong Leam Choi, Kyung Hee Kim, Hyo Sook Hong, Wan Soeb Kim |
Department of Pediatrics, Presbyterian Medical Center, Chon-Ju, Korea |
Cockayne 증후군 1례 |
최종림, 김경희, 홍효숙, 김완섭 |
전주 예수병원 소아과 |
Received: 20 April 1989 • Accepted: 3 July 1989 |
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Abstract |
We experienced a case of Cockayne syndrome in a 12 10/12 year-old male who had characteristic
manifestations with cachectic dwarfism, severe mental retardation, intracranial calcifications, an
unusal face, photo-sensitive dermatitis and joint flexion contractures.
Laboratory investigations have not revealed any consistent abnormality.
We report this case with brief review of some related literatures. |
Key Words:
Cockayne syndrome |
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