摘要
Rubinstein-Taybi 综合征是一种以特征性面容,醒目的宽大拇指和巨大(?)趾及智力低下为主要特点的临床病征。除了具有全身多器官系统的畸形外,尚有多种眼部的先天异常,包括有内眦赘皮,向外下斜睑裂、高眉弓、长睫毛、鼻泪管阻塞、斜视及虹膜缺损等。本文报告3例明显多种眼部先天畸形的儿童病例,复习了本病的临床表现,提出对 Rubinstein-Taybi 综合征儿童应注意其泪道的先天异常。本文结合文献对本综合征的遗传学略加讨论,提出进一步用高分辨等技术探查染色体的微小缺失也许对其病因,发病机理与遗传学的研究是有益的。
The main features of Rubinstein-Taybi syndrome include special facial appearance, broad thumbs,great toes and mental retardation.This syndrome presents many organogenetic and sy-stemic deformities and various congenital ocular ab-normalities,such as epicanthus,antimogoloid pal-pebral fissures,highly arched brows,long eyelashes, obstruction of nasolacrimal ducts,strabismus and iris coloboma.In this paper we report three children with Rubinstein-Taybi syndrome with the above sy-stemic and ocular clinical findings,and think that the lacrimal abnormality should not be overlooked in this syndrome.We brief discuss the genetices of this syndrome and suggest that the search for mini-
mal chromosomal defects by high resolution techni-que might be useful for etiologic and genetic rese-arch.
出处
《眼科学报》
1989年第3期92-95,共4页
Eye Science
