Bloom syndrome is a rare autosomal recessive disorder characterized by short stature, brachydactyly, malar hypoplasia and facial telangiectesia, erythema and cafe au lait spots. Affected individuals have increased risk of developing malignancies.
There is extreme chromosomal fragility observed in Bloom syndrome which is due to defect in DNA synthesis as a result of DNA ligase I deficiency and affected individuals show extreme hypersensitivity to ultraviolet rays. T-lymphocytes, B-lymphoblastoid and fibroblast cells are particularly affected.
- 1. Horst A. Molecular Pathology. CRC Press. (1991) ISBN:0849360889. Read it at Google Books - Find it at Amazon
- 2. for (NORD) NORDI. NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. (2003) ISBN:0781730635. Read it at Google Books - Find it at Amazon
- 3. Baum VC, MPH JEOMD. Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes of Childhood. Lippincott Williams & Wilkins. (2007) ISBN:0781779383. Read it at Google Books - Find it at Amazon