Fanconi贫血系以再生障碍性贫血伴多发性先天性畸形为特征的家族性综合症。先天性畸形可有体格矮小、智力落后:骨骼异常,斜视,生殖器发育不良,肾脏畸形及先天性心脏病等。Fanconi—Zinsser综合征是指Fanconi贫血合并先天性角化不良症如广泛网状色素沉着,指(趾)甲营养不良,粘膜白斑等。本病为罕见的常染色体隐性遗传性疾病,有家族史,男性多见,常在10岁以前发病。现将1例报告如下。 Fanconi anemia is a familial syndrome characterized by aplastic anemia with multiple congenital anomalies. Congenital malformations may have physical shortness, mental retardation: skeletal abnormalities, strabismus, genital malformations, kidney malformations and congenital heart disease. Fanconi-Zinsser syndrome is Fanconi anemia combined with congenital dyskeratosis such as extensive reticular pigmentation, nail dystrophy, leukoplakia and the like. The disease is a rare autosomal recessive genetic disease, family history, common in men, often in the 10-year-old onset. Now one report is as follows.