鲁宾斯坦-泰比综合征：拇指和大脚趾粗大、面部异常及智力发育迟缓。三例病例报告。

Can Med Assoc J. 1967 Feb 25;96(8):462-6.

In 1963 Rubinstein and Taybi described, in seven children, a new symptom-complex characterized by broad thumbs and great toes, facial abnormalities, mental retardation and a cluster of congenital malformations. Since then 14 additional cases have been reported. In this paper three more such children are described. Chromosome studies were normal. The etiology of this disorder is unknown but it is probably genetic.

1963年，鲁宾斯坦和泰比描述了7名儿童身上出现的一种新的症状组合，其特征为拇指和大脚趾宽阔、面部异常、智力迟钝以及一系列先天性畸形。从那时起，又报告了14例。本文描述了另外3名这样的儿童。染色体研究结果正常。这种疾病的病因尚不清楚，但可能是遗传性的。