Higginbottom M C, Jones K L, Kung F H, Koch T K, Boyer J L
J Med Genet. 1978 Dec;15(6):484-6. doi: 10.1136/jmg.15.6.484.
This report describes a 2-month-old female with the Aase syndrome, bringing to 8 the total number of cases of this disorder. Features include triphalangeal thumbs and congenital hypoplastic anaemia. The occurrence of this disorder in sibs born to unaffected parents and in both sexes makes autosomal recessive inheritance the most likely aetiology.
本报告描述了一名患有阿斯综合征的2个月大女性，使该疾病的病例总数达到8例。其特征包括三节指骨拇指和先天性发育不全性贫血。这种疾病在父母未受影响的同胞以及男女两性中出现，使得常染色体隐性遗传成为最可能的病因。
