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范可尼贫血(FA),以幼年发生再障伴多发畸形为特点的常染色体隐性遗传性疾病,兹综合报告2例如下。例1 男,10岁。鼻衄、牙龈出血、自发性皮肤出血反复发作七年。体检:贫血貌,皮肤偶见出血点及瘀斑,左颈部2×4cm色素沉着斑。心界向左扩大,心尖区可闻及Ⅲ级收缩期吹风样杂音,向周围传导。两肺阴性,肝脾淋巴结无肿大。左手2～5指并指畸形,末节缺如,已行手术分离。检验:外周血象三
Fanconi anemia (FA), a childhood aplastic anemia with multiple features characterized by autosomal recessive genetic disease, it is a comprehensive report of 2 cases as follows. Example 1 male, 10 years old. Epistaxis, gingival bleeding, spontaneous skin bleeding repeated episodes of seven years. Physical examination: anemia appearance, occasional skin bleeding and ecchymosis, left neck 2 × 4cm pigmentation spots. Heart to the left to expand the apex area can be heard and Ⅲ grade systolic hair-like noise, to the surrounding conduction. Two lungs negative, no enlarged liver and spleen lymph nodes. Left hand 2 to 5 refers to and refers to deformity, distal absence, has been surgical separation. Test: peripheral blood as three