Clinical and Experimental Pediatrics

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Original Article

Jong Leam Choi, Kyung Hee Kim, Hyo Sook Hong, Wan Soeb Kim

Clin Exp Pediatr. 1989;32(10):1422-1427. Published online October 31, 1989

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.

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