Theile U, Draf U, Heldt J P
Dtsch Med Wochenschr. 1978 Sep 29;103(39):1505-10. doi: 10.1055/s-0028-1129291.
The clinical picture of the Rubinstein-Taybi syndrome is characterized by mental retardation, broad thumb and large toe, beaky nose, antimongloid lid axis and numerous morphological signs. The patients resemble one another so that in many instances the diagnosis can be made on sight. Three cases are described. The exact differentiation from other abnormalities with mental retardation is important, especially in genetic counselling of the affected families.
鲁宾斯坦-泰比综合征的临床表现以智力发育迟缓、拇指和大脚趾宽大、鹰嘴鼻、反蒙古样睑裂轴以及众多形态学特征为特点。患者彼此相似，以至于在许多情况下一眼就能做出诊断。本文描述了三例病例。与其他伴有智力发育迟缓的异常情况进行准确鉴别很重要，尤其是在对受累家庭进行遗传咨询时。
