{"title":"青少年爱德华兹综合征:一例罕见病例报告","authors":"Igor Trindade, Marise Pescador","doi":"10.25060/residpediatr-2021.v11n3-223","DOIUrl":null,"url":null,"abstract":"Edwards’ syndrome is a severe genetic disease (chromosome 18 trisomy) that has a very restrict prognosis, resulting in premature death of the carrier. This study aims to report a case of survival of 12 years old girl diagnosed in the first months of life, her clinical evolution and the treatments performed by it. The multidisciplinary treatment performed by the adolescent since the first months of life shows the importance of this approach to improve the quality of life of patients with this syndrome.","PeriodicalId":338092,"journal":{"name":"Residência Pediátrica","volume":"71 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Teenager with Edwards’ syndrome: a rare case report\",\"authors\":\"Igor Trindade, Marise Pescador\",\"doi\":\"10.25060/residpediatr-2021.v11n3-223\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Edwards’ syndrome is a severe genetic disease (chromosome 18 trisomy) that has a very restrict prognosis, resulting in premature death of the carrier. This study aims to report a case of survival of 12 years old girl diagnosed in the first months of life, her clinical evolution and the treatments performed by it. The multidisciplinary treatment performed by the adolescent since the first months of life shows the importance of this approach to improve the quality of life of patients with this syndrome.\",\"PeriodicalId\":338092,\"journal\":{\"name\":\"Residência Pediátrica\",\"volume\":\"71 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1900-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Residência Pediátrica\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.25060/residpediatr-2021.v11n3-223\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Residência Pediátrica","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.25060/residpediatr-2021.v11n3-223","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Teenager with Edwards’ syndrome: a rare case report
Edwards’ syndrome is a severe genetic disease (chromosome 18 trisomy) that has a very restrict prognosis, resulting in premature death of the carrier. This study aims to report a case of survival of 12 years old girl diagnosed in the first months of life, her clinical evolution and the treatments performed by it. The multidisciplinary treatment performed by the adolescent since the first months of life shows the importance of this approach to improve the quality of life of patients with this syndrome.
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