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与先天性青光眼相关的斯蒂克勒综合征。

Stickler's syndrome associated with congenital glaucoma.

作者信息

Ziakas N G, Ramsay A S, Lynch S A, Clarke M P

机构信息

Department of Ophthalmology, Royal Victoria Infirmary, University of Newcastle upon Tyne, UK.

出版信息

Ophthalmic Genet. 1998 Mar;19(1):55-8. doi: 10.1076/opge.19.1.55.2177.

Abstract

A case report of Stickler's syndrome associated with congenital glaucoma is presented. Stickler's syndrome is an autosomal dominant disorder characterised by progressive arthropathy, midfacial flattening, Pierre Robin anomaly or cleft palate, sensorineural hearing loss, progressive myopia, vitreoretinal degeneration, and retinal detachment. Congenital glaucoma and Stickler's syndrome are two diagnoses frequently considered in high myopia in infancy. The case report described presents a case of Stickler's syndrome in association with congenital glaucoma. This association is unusual, but important to recognise in the neonatal period. The possibility of coexistence of these clinical entities, should be considered in the future.

摘要

本文报告一例与先天性青光眼相关的斯蒂克勒综合征病例。斯蒂克勒综合征是一种常染色体显性疾病,其特征为进行性关节病、面中部扁平、皮埃尔·罗宾异常或腭裂、感音神经性听力损失、进行性近视、玻璃体视网膜变性和视网膜脱离。先天性青光眼和斯蒂克勒综合征是婴儿期高度近视时经常考虑的两种诊断。所描述的病例报告呈现了一例与先天性青光眼相关的斯蒂克勒综合征病例。这种关联并不常见,但在新生儿期识别出来很重要。未来应考虑这些临床病症共存的可能性。

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