All issues > Volume 32(10); 1989

Original Article

J Korean Pediatr Soc. 1989;32(10):1422-1427. Published online October 31, 1989.

A Case of Cockayne Syndrome.

Jong Leam Choi¹, Kyung Hee Kim¹, Hyo Sook Hong¹, Wan Soeb Kim¹

¹Department of Pediatrics, Presbyterian Medical Center, Chon-Ju, Korea

Received: April 20, 1989;  Accepted: July 3, 1989.

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.

Keywords :Cockayne syndrome