Bloom Syndrome in Two Siblings

被引:7
|
作者
Sultan, Sheikh Javeed [1 ]
Sultan, Sheikh Tariq [2 ]
机构
[1] SKIMS Med Coll, Srinagar, Jammu & Kashmir, India
[2] Govt Med Coll, Srinagar, Jammu & Kashmir, India
关键词
CONGENITAL TELANGIECTATIC ERYTHEMA; SISTER CHROMATID EXCHANGES; GROWTH RETARDATION; MUTATION; BREAKAGE;
D O I
10.1111/j.1525-1470.2010.01101.x
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
Bloom syndrome (congenital telangiectatic erythema) is a rare autosomal recessive disorder characterized by telangiectasias and photosensitivity, growth deficiency of prenatal onset, variable degrees of immunodeficiency, and increased susceptibility to neoplasms of many sites and types. We are reporting Bloom syndrome in two brothers from Kashmir (India), 8 and 6 years of age, who presented with erythematous rashes on the face, photosensitivity, and growth retardation.
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页码:174 / 177
页数:4
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