Suppr超能文献

亚当斯-奥利弗综合征伴难治性青光眼。

Adams-Oliver syndrome associated with refractory glaucoma.

作者信息

Pillai Manju R, Pabolu Chinmayee, R Rajabharani, Chaudhary Sameer, Sr Krishnadas, Puthuran George Varghese

机构信息

Department of Glaucoma services, Aravind Eye Hospital, Madurai, Tamil Nadu, India.

Department of General Ophthalmology, Aravind Eye Hospital, Madurai, Tamil Nadu, India.

出版信息

J AAPOS. 2024 Aug;28(4):103950. doi: 10.1016/j.jaapos.2024.103950. Epub 2024 Jun 10.

Abstract

Adams-Oliver syndrome (AOS) is a rare inherited disorder characterized by aplasia cutis congenita, cutis marmorata telangiectatica congenita, and terminal limb defects. Ocular associations have been rarely reported. We report a 6-month-old boy with AOS associated with refractory glaucoma, megalocornea, and anterior polar cataract. To our knowledge, this is the first case of glaucoma to be reported in association with AOS.

摘要

亚当斯-奥利弗综合征(AOS)是一种罕见的遗传性疾病,其特征为先天性皮肤发育不全、先天性毛细血管扩张性大理石样皮肤和肢体末端缺损。眼部相关表现鲜有报道。我们报告一例6个月大患有AOS的男孩,其伴有难治性青光眼、大角膜和前极性白内障。据我们所知,这是首例报道的与AOS相关的青光眼病例。

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