Hennekam R C
Clinical Genetics Center Utrecht, The Netherlands.
Clin Dysmorphol. 1993 Jan;2(1):87-92.
The Rubinstein-Taybi syndrome is a classical multiple congenital anomaly syndrome. The classical gestalt is striking and poses few diagnostic problems, but sometimes diagnosis is extremely difficult. In this paper the change in facial appearance of affected individuals is demonstrated, to improve insight into the evolution of the phenotype and to increase its diagnostic potential.
鲁宾斯坦-泰比综合征是一种典型的多发性先天性异常综合征。其典型的整体外观特征显著，诊断问题较少，但有时诊断极其困难。本文展示了受影响个体面部外观的变化，以增进对表型演变的了解并提高其诊断潜力。
