Cantani A, Gagliesi D
Department of Pediatrics, Medical School, University La Sapienza, Rome, Italy.
Eur Rev Med Pharmacol Sci. 1998 Mar-Apr;2(2):81-7.
In 1963 Rubinstein and Taybi described a new syndrome characterized by broad thumbs and toes, facial abnormalities and mental retardation. The syndrome can be observed in the neonatal period by typical thumbs, halluces and facial abnormalities. The prevalence in the general population is unknown, however the disorder is not rare and is present in about 1:600 patients in mental retardation clinics. At the present time there is no definite inheritance pattern and recurrence is very unlikely. 18 different chromosomal anomalies have been identified in some patients with this syndrome. In this paper we identify a typical case and review the symptoms and signs of the RT syndrome and meta-analyze 732 cases.
1963年，鲁宾斯坦和泰比描述了一种以拇指和脚趾宽阔、面部异常及智力迟钝为特征的新综合征。该综合征在新生儿期可通过典型的拇指、拇趾及面部异常观察到。一般人群中的患病率尚不清楚，但这种疾病并不罕见，在智力迟钝诊所中约每600名患者中就有1例。目前，尚无明确的遗传模式，复发的可能性极小。在一些患有该综合征的患者中已鉴定出18种不同的染色体异常。在本文中，我们确定了一个典型病例，并回顾了鲁宾斯坦-泰比综合征的症状和体征，还对732例病例进行了荟萃分析。
