摘要
患儿女,18月龄,因"新型冠状病毒核酸筛查异常2 d"入上海交通大学医学院附属仁济医院(南部院区)定点医院隔离病房。患儿表现为特殊面容,发育迟缓,且因先天性胆道闭锁及腭裂先后行肝移植手术及腭裂修复术,为进一步明确病因,故行全外显子基因检测提示KMT2D基因杂合变异,变异位点为exon39:c.11965C>T(p.Q3989X),结合患儿临床表现和基因结果确诊为歌舞伎综合征。
作者
王星
葛婷
周韬
夏强
卢燕鸣
王立波
张婷
Wang Xing;Ge Ting;Zhou Tao;Xia Qiang;Lu Yanming;Wang Libo;Zhang Ting(Department of Gastroenterology,Hepatology and Nutrition,Shanghai Children′s Hospital,School of Medicine,Shanghai Jiao Tong University,Shanghai 200062,China;Department of Liver Transplantation,Renji Hospital,School of Medicine,Shanghai Jiao Tong University,Shanghai 201114,China;Department of Pediatrics,Renji Hospital,School of Medicine,Shanghai Jiao Tong University,Shanghai 201114,China;Respiratory Department,Children′s Hospital of Fudan University,National Children's Medical Center,Shanghai 201102,China)
出处
《中华儿科杂志》
CAS
CSCD
北大核心
2023年第2期180-181,共2页
Chinese Journal of Pediatrics
