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- W590410103 abstract "目的:分析 Di-George 综合征的临床特点,以减少误诊误治。方法回顾性分析1例 Di-George 综合征误诊病例资料。结果本例出生后2月余,因反复抽搐1月余,发热2 d 入院。于外院先后诊断为甲状旁腺功能减低(甲旁减)、法洛四联症、细胞免疫功能低下,予相应治疗无明显好转转我院。经查体发现特殊面容、血钙1.12 mmol/ L、细胞免疫功能低下,X 线胸片检查示肺部感染、胸腺影小,怀疑 Di-George 综合征可能,进一步经染色体检查发现染色体22q11.2微缺失而确诊。建议行胸腺移植,因经济原因自动出院,后失访。结论临床医生应加强对 Di-George 综合征的认识,对可疑病例应及时行分子遗传学检查以及早诊断并治疗,改善患儿预后。" @default.
- W590410103 created "2016-06-24" @default.
- W590410103 creator A5015434802 @default.
- W590410103 creator A5082602697 @default.
- W590410103 date "2014-01-01" @default.
- W590410103 modified "2023-09-23" @default.
- W590410103 title "临床少见的 Di-George 综合征误诊原因分析" @default.
- W590410103 hasPublicationYear "2014" @default.
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