{"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":"61 8","pages":"733-735"},"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}
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