姐妹同患Bloom综合征2例  

Bloom’s syndrome in two sibling sisters

作　　者：王宏伟[1] 夏维波[2] 左亚刚[1] 刘跃华[1] 

机构地区：[1]北京协和医院皮肤科,北京100730 [2]北京协和医院内分泌科,北京100730

出　　处：《临床皮肤科杂志》2003年第2期84-86,共3页Journal of Clinical Dermatology

摘　　要：报道2例同胞姐妹患Bloom综合征。例1为10岁,有侏儒、光敏和面部毛细血管扩张性红斑及血IgM低下,并伴有多处骨折,染色体检查正常。例2为5岁,有光敏和面部毛细血管扩张性红斑,发育正常,染色体检查正常。Bloom’s syndrome is a rare disease transmitted as an autosomal r ecessive trait.Two sibling sisters with Bloom’s syn-drome are re ported.Cas e1was10years old,Zhuang nationality,the clinical manifestations included fa cial erythema tous telangiectasias,photosen sitivity,stunted growth,and low s erum level of IgM.The patient had several bone fractures.Chro mo-somal abno rmality was not found.Case2was5years old,Zhuang nationality,the clinical ma nifesta tions included ery the-ma tous telangiectasias of the face,photosensit ivity,normal growth,and chromosomal ab normality was not found,either.

关 键 词：BLOOM综合征 病例报告 症状 诊断 

分 类 号：R596[医药卫生—内科学]