{"title":"一例非巨幼红细胞性巨幼红细胞贫血症：布莱克凡-戴蒙德综合征","authors":"Giulia Aquisti, Maria Eleonora Basso, I. Rabbone","doi":"10.53126/mebxxviimg92","DOIUrl":null,"url":null,"abstract":"The case of a two-year-old child with severe isolated anaemia (6 g%) and marked macrocytosis, ultimately diagnosed as Blackfan-Diamond syndrome, is described. The genetic, clinical and prognostic aspects of the disease are briefly discussed.","PeriodicalId":198715,"journal":{"name":"Medico e Bambino pagine elettroniche","volume":"4 12","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Un caso di anemia macrocitica non megaloblastica: la sindrome di Blackfan Diamond\",\"authors\":\"Giulia Aquisti, Maria Eleonora Basso, I. Rabbone\",\"doi\":\"10.53126/mebxxviimg92\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"The case of a two-year-old child with severe isolated anaemia (6 g%) and marked macrocytosis, ultimately diagnosed as Blackfan-Diamond syndrome, is described. The genetic, clinical and prognostic aspects of the disease are briefly discussed.\",\"PeriodicalId\":198715,\"journal\":{\"name\":\"Medico e Bambino pagine elettroniche\",\"volume\":\"4 12\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-05-24\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Medico e Bambino pagine elettroniche\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.53126/mebxxviimg92\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medico e Bambino pagine elettroniche","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.53126/mebxxviimg92","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Un caso di anemia macrocitica non megaloblastica: la sindrome di Blackfan Diamond
The case of a two-year-old child with severe isolated anaemia (6 g%) and marked macrocytosis, ultimately diagnosed as Blackfan-Diamond syndrome, is described. The genetic, clinical and prognostic aspects of the disease are briefly discussed.
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