Cruz O A, Mason D M, Eswara M S, Lueder G T
Department of Ophthalmology, Anheuser-Busch Eye Institute, St. Louis University School of Medicine, MO, USA.
Ophthalmic Genet. 1995 Dec;16(4):171-5. doi: 10.3109/13816819509057859.
The authors present a case report of Duane retraction syndrome (DRS) associated with Rubinstein-Taybi syndrome (RTS). RTS is a multisystem condition characterized by psychomotor developmental delay, broad thumbs and great toes, short stature, and characteristic facies with a beaked nose. DRS is an ocular disorder characterized by retraction of the globe with narrowing of the palpebral fissure in attempted adduction, with abduction and/or adduction deficiency, and, frequently, upshoot or downshoot of the affected eye on adduction. The case report described represents the first reported case of DRS associated with RTS, an association not previously recognized. This association raises the possibility that the abnormal CNS development in RTS may occasionally involve the ocular motor nerves.
作者报告了一例与鲁宾斯坦-泰比综合征（RTS）相关的杜安眼球后退综合征（DRS）病例。RTS是一种多系统疾病，其特征为精神运动发育迟缓、拇指和大脚趾宽阔、身材矮小以及具有鹰嘴鼻的特征性面容。DRS是一种眼部疾病，其特征为在试图内收时眼球后退、睑裂变窄，伴有外展和/或内收不足，并且受累眼在内收时常出现上射或下射。所描述的该病例报告是首例报道的DRS与RTS相关的病例，此前未认识到这种关联。这种关联增加了RTS中异常中枢神经系统发育可能偶尔累及眼运动神经的可能性。
