{"title":"[1例超声发现法洛四联症合并胸腺发育不全,最终诊断为DiGeorge综合征]。","authors":"X Y Gong, Z H Yang, W Li, Y H Yang","doi":"10.3760/cma.j.cn112140-20230511-00328","DOIUrl":null,"url":null,"abstract":"患儿 女,35分钟龄,因先天性心脏病入院,入院时行床旁超声发现法洛四联症合并胸腺发育不全,考虑DiGeorge综合征,住院期间基因检查证实22q11.21区域微缺失变异,确诊DiGeorge综合征。患儿行外科手术矫治心脏畸形后随访1年余,无生长发育迟缓,但存在反复感染及运动语言发育迟滞。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[A case with tetralogy of Fallot and thymus hypoplasia found by ultrasound was eventually diagnosed as DiGeorge syndrome].\",\"authors\":\"X Y Gong, Z H Yang, W Li, Y H Yang\",\"doi\":\"10.3760/cma.j.cn112140-20230511-00328\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"患儿 女,35分钟龄,因先天性心脏病入院,入院时行床旁超声发现法洛四联症合并胸腺发育不全,考虑DiGeorge综合征,住院期间基因检查证实22q11.21区域微缺失变异,确诊DiGeorge综合征。患儿行外科手术矫治心脏畸形后随访1年余,无生长发育迟缓,但存在反复感染及运动语言发育迟滞。.\",\"PeriodicalId\":23998,\"journal\":{\"name\":\"Zhonghua er ke za zhi = Chinese journal of pediatrics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-08-02\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Zhonghua er ke za zhi = Chinese journal of pediatrics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3760/cma.j.cn112140-20230511-00328\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Zhonghua er ke za zhi = Chinese journal of pediatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3760/cma.j.cn112140-20230511-00328","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}