Cockayne Syndrome. Report of three cases in a South African family of Indian origin.

Abstract

Cockayne Syndrome (CS) is a multisystem photosensitive genetic disorder due to a defect in DNA repair. The hallmarks of Cockayne syndrome are postnatal growth failure and progressive neurological dysfunction. We describe three patients; A 23 year old female with psychomotor and growth retardation, difficulty with ambulation and impaired hearing and her 2 cousins; a 17 year old male and his 13 year old brother both referred with similar problems. The mothers of the patients are sisters and their fathers are brothers.