Bogdănici C, Neamţu N, Rusu C
Clinica i Oftalmologie, Spital SF. Spiridon Iaşi.
Oftalmologia. 2001;53(3):26-30.
Rubinstein-Taybi syndrome, known also as "Broad Thumb-Hallux syndrome", was first recognized by Rubinstein and Taybi in 1963 and is characterized by somatic and ophthalmologic signs. Most commonly somatic changes are: broad thumbs and hallux, craniofacial dysmorphism, growth and psychomotor retardation. Most frequently reported eye anomalies are: antimongoloid slant of the palpebral fissures, strabismus, congenital obstruction of the lacrimal excretory system, colobomas of the iris and of the optic nerve head, ametropia.
鲁宾斯坦-泰比综合征,也被称为“宽拇指-拇趾综合征”,于1963年首次被鲁宾斯坦和泰比识别出来,其特征为躯体和眼科体征。最常见的躯体变化有:宽拇指和拇趾、颅面畸形、生长发育和精神运动发育迟缓。最常报道的眼部异常有:睑裂反蒙古样倾斜、斜视、泪液排泄系统先天性阻塞、虹膜和视神经乳头缺损、屈光不正。