Jorge Hernández-Cerdá, Víctor Alegre-Ituarte, S. González-Ocampo
{"title":"Pierre Robin序列与圆锥角膜罕见的关联","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":"{\"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}","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}
Pierre Robin sequence and keratoconus, a rare association
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.