{"title":"1例鲁宾斯坦-泰比综合征患儿的麻醉考虑","authors":"R. Kumari, Arshi Agrawal, Anshul Goyal","doi":"10.4103/jica.jica_29_22","DOIUrl":null,"url":null,"abstract":"Rubinstein − Taybi Syndrome (RTS) is a rare genetic syndrome caused by a mutation in the cAMP response element binding protein gene or EP300 gene or as the result of microdeletion from short (p) arm of chromosome 16. The diagnosis of RTS is made primarily through physical appearance. It may be associated with the disorders of multiple organ systems. Anesthetic management might be challenging in RTS due to various factors. A thorough preoperative evaluation and careful preparation for difficult airways before anesthesia is mandatory for successful case management. Here, we report the case of a 9-year-old child with RTS posted for cystoscopy.","PeriodicalId":361779,"journal":{"name":"Journal of Indian College of Anaesthesiologists","volume":"78 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Anesthetic considerations in a child with Rubinstein–Taybi syndrome\",\"authors\":\"R. Kumari, Arshi Agrawal, Anshul Goyal\",\"doi\":\"10.4103/jica.jica_29_22\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Rubinstein − Taybi Syndrome (RTS) is a rare genetic syndrome caused by a mutation in the cAMP response element binding protein gene or EP300 gene or as the result of microdeletion from short (p) arm of chromosome 16. The diagnosis of RTS is made primarily through physical appearance. It may be associated with the disorders of multiple organ systems. Anesthetic management might be challenging in RTS due to various factors. A thorough preoperative evaluation and careful preparation for difficult airways before anesthesia is mandatory for successful case management. Here, we report the case of a 9-year-old child with RTS posted for cystoscopy.\",\"PeriodicalId\":361779,\"journal\":{\"name\":\"Journal of Indian College of Anaesthesiologists\",\"volume\":\"78 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Indian College of Anaesthesiologists\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/jica.jica_29_22\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Indian College of Anaesthesiologists","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/jica.jica_29_22","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Anesthetic considerations in a child with Rubinstein–Taybi syndrome
Rubinstein − Taybi Syndrome (RTS) is a rare genetic syndrome caused by a mutation in the cAMP response element binding protein gene or EP300 gene or as the result of microdeletion from short (p) arm of chromosome 16. The diagnosis of RTS is made primarily through physical appearance. It may be associated with the disorders of multiple organ systems. Anesthetic management might be challenging in RTS due to various factors. A thorough preoperative evaluation and careful preparation for difficult airways before anesthesia is mandatory for successful case management. Here, we report the case of a 9-year-old child with RTS posted for cystoscopy.