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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. |
