伴有难治性青光眼的亚当斯-奥利弗综合征。

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY Accounts of Chemical Research Pub Date : 2024-08-01 DOI:10.1016/j.jaapos.2024.103950

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引用次数: 0

摘要

亚当斯-奥利弗综合征（Adams-Oliver Syndrome，AOS）是一种罕见的遗传性疾病，其特征是先天性皮肤增生症、先天性毛细血管扩张性皮肤病和肢体末端缺陷。与眼部有关的病例很少见报道。我们报告了一名 6 个月大的 AOS 男孩，他患有难治性青光眼、巨角膜症和前极性白内障。据我们所知，这是第一例与 AOS 相关的青光眼病例。

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Adams-Oliver syndrome associated with refractory glaucoma

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.

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.