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December 1966

Picture of the Month

Author Affiliations


Am J Dis Child. 1966;112(6):581-582. doi:10.1001/archpedi.1966.02090150125015

Denouement and Discussion 

BLOOM'S SYNDROME  (Congenital Telangiectatic Erythema and Stunted Growth)

MANIFESTATIONS  The three cardinal features of Bloom's syndrome are congenital telangiectatic erythema of the face, sensitivity to sunlight, and stunted growth. Areas involved are the cheeks, nose, margins of the eyelids, lips, forehead, and ears. Generally, the eruption appears as "erythematous telangiectatic spots" or plaques or patches of scattered macular red lesions. The sun usually causes exacerbation of the eruption. The dwarfism may be classified as primordial or genetic in type. There is no evidence of hypopituitarism. An important feature of the dwarfism is low birth weight with normal gestational age. Slow growth usually becomes manifest in the early months of life. During childhood these children have a slender build with a narrow fine-featured face. The head circumference is small. Other reported associated defects involve both ectodermal or mesodermal tissues. They include: lichen