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Blooms综合征是一种常染色体隐性遗传性疾病,又称先天性毛细血管扩张性红斑。临床较少见,国内外报道不多。本文介绍一例典型病例,并就其病因和临床进行分析。
Blooms syndrome is an autosomal recessive genetic disease, also known as congenital telangiectasia erythema. Clinical less common, few reports at home and abroad. This article describes a typical case, and its etiology and clinical analysis.