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Bloom syndrome

Pronunciation: blom

Definition: congenital telangiectatic erythema, primarily in butterfly distribution, of the face and occasionally of the hands and forearms, with sun sensitivity of skin lesions and dwarfism with normal body proportions except for a narrow face and dolichocephalic skull; chromosomes are excessively unstable and there is a predisposition to malignancy; autosomal recessive inheritance, caused by mutation in the Bloom syndrome gene (BLM) on chromosome 15q.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.