Pierre Robin sequence and keratoconus, a rare association

Jorge Hernández-Cerdá, Víctor Alegre-Ituarte, S. González-Ocampo
{"title":"Pierre Robin sequence and keratoconus, a rare association","authors":"Jorge Hernández-Cerdá, Víctor Alegre-Ituarte, S. González-Ocampo","doi":"10.53986/ibjm.2023.0006","DOIUrl":null,"url":null,"abstract":"Pierre Robin sequence (PRS) is an inherited disorder that affects one in between 8,500 and 14,000 people and is characterized by a triad of clinical signs. These include micrognathia, glossoptosis and obstruction of the upper airway, typically associated with palatal cleft. PRS has also been associated with various ocular complications, including high congenital myopia, congenital glaucoma, and retinal detachment. Because of the clinical importance of PRS, it is critical to illustrate the features of the Robin sequence to clearly define its primary and secondary clinical signs. We describe a patient with PRS who developed keratoconus as a rare manifestation of the disease and its management.","PeriodicalId":13190,"journal":{"name":"Iberoamerican Journal of Medicine","volume":"12 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Iberoamerican Journal of Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.53986/ibjm.2023.0006","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

Abstract

Pierre Robin sequence (PRS) is an inherited disorder that affects one in between 8,500 and 14,000 people and is characterized by a triad of clinical signs. These include micrognathia, glossoptosis and obstruction of the upper airway, typically associated with palatal cleft. PRS has also been associated with various ocular complications, including high congenital myopia, congenital glaucoma, and retinal detachment. Because of the clinical importance of PRS, it is critical to illustrate the features of the Robin sequence to clearly define its primary and secondary clinical signs. We describe a patient with PRS who developed keratoconus as a rare manifestation of the disease and its management.
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
Pierre Robin序列与圆锥角膜罕见的关联
皮埃尔·罗宾综合征(PRS)是一种遗传性疾病,每8500到14000人中就有1人患有这种疾病,其特点是有三种临床症状。这些症状包括小颌畸形、舌下垂和上呼吸道阻塞,通常与腭裂有关。PRS还与多种眼部并发症有关,包括高度先天性近视、先天性青光眼和视网膜脱离。由于PRS的临床重要性,阐明Robin序列的特征以明确其主要和次要临床体征至关重要。我们描述了一位患有PRS的患者,他发展为圆锥角膜,这是一种罕见的疾病表现及其管理。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
自引率
0.00%
发文量
0
期刊最新文献
Antibiotic resistance and adherence to clinical guidelines in the Emergency Department. Are we doing it right? MicroRNAs and their role in newborn weight Age dependence of chemical element contents in normal human breast investigated using inductively coupled plasma atomic emission spectrometry Use of stem cell-enriched fat grafts in facial reconstruction: have they demonstrated superiority over autologous fat grafting? Cerebral tuberculomas: manifestation of extrapulmonary tuberculosis in an immunocompromised patient. A case report
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1