{"title":"Adams-Oliver syndrome associated with refractory glaucoma","authors":"","doi":"10.1016/j.jaapos.2024.103950","DOIUrl":null,"url":null,"abstract":"<div><p><span>Adams-Oliver syndrome (AOS) is a rare inherited disorder characterized by aplasia cutis congenita<span>, cutis marmorata telangiectatica congenita, and terminal </span></span>limb defects<span>. 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.</span></p></div>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":null,"pages":null},"PeriodicalIF":1.2000,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Aapos","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1091853124002301","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
引用次数: 0
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.
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。
期刊介绍：
Journal of AAPOS presents expert information on children''s eye diseases and on strabismus as it affects all age groups. Major articles by leading experts in the field cover clinical and investigative studies, treatments, case reports, surgical techniques, descriptions of instrumentation, current concept reviews, and new diagnostic techniques. The Journal is the official publication of the American Association for Pediatric Ophthalmology and Strabismus.
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