Chen Y Z, Ma Q Y, Zeng L H
Yan Ke Xue Bao. 1989 Dec;5(3-4):92-5.
The main features of Rubinstein-Taybi syndrome include special facial appearance, broad thumbs, great toes and mental retardation. This syndrome presents many organogenetic and systemic deformities and various congenital ocular abnormalities, such as epicanthus, antimogoloid palpebral fissures, highly arched eyebrows, long eyelashes, obstruction of nasolacrimal ducts, strabismus and iris coloboma. In this paper we report three children with Rubinstein-Taybi syndrome with the above systemic and ocular clinical findings, and think that the lacrimal abnormality should not be overlooked in this syndrome. We brief discuss the genetics of this syndrome and suggest that the search for minimal chromosomal defects by high resolution technique might be useful for etiologic and genetic research.
鲁宾斯坦-泰比综合征的主要特征包括特殊面容、拇指宽大、大脚趾宽大以及智力发育迟缓。该综合征存在许多器官发生和全身畸形以及各种先天性眼部异常，如内眦赘皮、反蒙古样睑裂、眉弓高拱、睫毛长、鼻泪管阻塞、斜视和虹膜缺损。本文报告了3例具有上述全身和眼部临床表现的鲁宾斯坦-泰比综合征患儿，并认为该综合征中的泪道异常不应被忽视。我们简要讨论了该综合征的遗传学，并提出通过高分辨率技术寻找最小染色体缺陷可能对病因学和遗传学研究有用。
