论文部分内容阅读
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。
Rubinstein-Taybi syndrome is a clinical feature characterized by its distinctive face, eye-catching wide thumb and huge toe and mental retardation. In addition to having deformities of the whole body and multiple organ systems, there are a variety of congenital anomalies of the eye that include epicanthrops, downward protuberant palpebral fissures, tall eyebrows, long eyelashes, nasolacrimal duct obstruction, strabismus and iris defects Wait. This article reports 3 cases of obvious cases of congenital ocular deformities in children, reviewed the clinical manifestations of the disease, proposed Rubinstein-Taybi syndrome children should pay attention to the congenital anomalies lacrimal duct. This article combines the literature on the genetics of this syndrome a little discussion, proposed further use of high resolution and other techniques to explore the micro-missing chromosome may be its etiology, pathogenesis and genetics is beneficial.