Bloom's syndrome.

Abstract excerpt

Bloom's syndrome is a rare autosomal recessively transmitted disorder, the main clinical feature of which is small body size. A sun-sensitive, erythematous facial skin lesion, an excess of well-demarcated hyper- and hypopigmented skin lesions located anywhere on the body, and increased numbers of bacterial infections due to immunodeficiency are accompanying features of diagnostic value. In Bloom's syndrome, the...

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