Horseshoe kidney in a patient with Bloom's syndrome

Bloom's syndrome is a rare autosomal recessive disorder. Small body stature, erythematous, sun-sensitive telangiectatic facial skin, and increased tendency to develop malignancy in early life due to inherent genetic predisposition and tendency to develop infections due to immunodeficiency are characteristic features in this condition. We report a 22-month-old girl with typical features of Bloom's syndrome, with a horseshoe kidney. Horseshoe kidney as a possible association of Bloom's syndrome has not been described before. As the risk of renal malignancy is higher in horseshoe kidneys, when it occurs in a patient with Bloom's syndrome, the relative risk of malignancy could be higher.