Bloom's Syndrome

Abstract
Bloom's syndrome is a genodermatosis characterized by a telangiectatic erythema of the face beginning in infancy, sensitivity to sunlight, small stature, and a low birth weight after a full-term gestation. A structural chromosome abnormality and an increased incidence of leukemia are associated. A classical example of this syndrome is presented in a patient who also exhibited low yA and γM levels in the serum. Bloom's syndrome is compared with four other syndromes that have some similarity to it: Rothmund-Thomson syndrome, Cockayne's syndrome, ataxiatelangiectasia, and dyskeratosis congenita. These syndromes may be unrelated or may represent variants of the same underlying condition.

This publication has 0 references indexed in Scilit: