Suppr超能文献

[斯蒂克勒综合征或遗传性进行性关节眼病]

[Stickler's syndrome or hereditary progressive arthro-ophthalmopathy].

作者信息

Vallat M, Fritsch D, Van Coppenolle F, Detre J, Moze M, Rabourdin F

出版信息

J Fr Ophtalmol. 1985;8(4):301-7.

PMID:4020040
Abstract

Hereditary Progressive Arthro-Ophthalmopathy was described for the first time by Stickler. The major features of the syndrome are: myopia with retinal detachment and blindness, bone and joint dysplasia with arthropathy, and hearing loss. The condition is autosomal dominant with strong expressivity. Findings of 11 patients from 3 families are reported here: they confirm that this syndrome can be considered as a severe connective tissue disease.

摘要

遗传性进行性关节-眼病最早由斯蒂克勒描述。该综合征的主要特征为:伴有视网膜脱离和失明的近视、伴有关节病的骨骼和关节发育异常以及听力丧失。该病为常染色体显性遗传,具有强表达性。本文报告了来自3个家族的11例患者的研究结果:这些结果证实该综合征可被视为一种严重的结缔组织病。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验