Wajda M, Turno-Krecicka A
Katedry i Kliniki Okulistycznej AM we Wrocławiu.
Klin Oczna. 2000;102(2):139-41.
Rubinstein-Taybi syndrome is a constellation of clinical findings characterized by mental and motor retardation, broad thumbs and broad first toes, typical facies. Ocular and adnexal abnormalities are quite common and include antimongoloid slant of the palpebral fissures, epicanthal folds, congenital obstruction of the lacrimal excretory system, ptosis, strabismus, congenital cataract and congenital glaucoma. The authors describe the case of a 1-year-old male with the Rubinstein-Taybi syndrome associated with unilateral congenital glaucoma. The case emphasizes the importance of detailed complete ocular examinations in patients with Rubinstein-Taybi syndrome, and also highlights the occurrence of ocular abnormalities rarely associated with this disease.
鲁宾斯坦-泰比综合征是一组临床症状,其特征为智力和运动发育迟缓、拇指宽大、第一趾宽大以及典型面容。眼部及附属器异常颇为常见,包括睑裂反蒙古样倾斜、内眦赘皮、泪道先天性阻塞、上睑下垂、斜视、先天性白内障和先天性青光眼。作者描述了一例1岁男性鲁宾斯坦-泰比综合征合并单侧先天性青光眼的病例。该病例强调了对鲁宾斯坦-泰比综合征患者进行详细全面眼部检查的重要性,同时也突出了与该疾病罕见相关的眼部异常的发生情况。