USP7基因突变引起Hao-Fountain综合症1例报道  

A Mutation of Usp7 Gene Caused Hao-Fountain Syndrome

作　　者：李士涛 刘玮玮 王珂欣 刘露 LI Shi-tao;LIU Wei-wei;WANG Ke-xin;LIU Lu(Department of Children's Health Care,Dezhou Maternal and Child Health Hospital of Shandong Province(Dezhou Women and Children's Hospital),Dezhou 253000,Shandong Province,China;Department of Radioimaging,Dezhou Maternal and Child Health Hospital of Shandong Province(Dezhou Women and Children's Hospital),Dezhou 253000,Shandong Province,China;Department of Special inspection,Dezhou Maternal and Child Health Hospital of Shandong Province(Dezhou Women and Children's Hospital),Dezhou 253000,Shandong Province,China;Epilepsy Center of Qilu Children's Hospital,Jinan 250022,Shandong Province,China)

机构地区：[1]山东省德州市妇幼保健院(德州市妇女儿童医院)儿童保健科,山东德州253000 [2]山东省德州市妇幼保健院(德州市妇女儿童医院)放射影像科,山东德州253000 [3]山东省德州市妇幼保健院(德州市妇女儿童医院)特检科,山东德州253000 [4]山东省山东大学齐鲁儿童医院癫痫中心,山东济南250022

出　　处：《中国CT和MRI杂志》2023年第5期187-188,共2页Chinese Journal of CT and MRI

摘　　要：USP7基因突变疾病是一种罕见的常染色体显性遗传病,理论上一条染色体发生突变即可发病,临床表现主要为神经发育障碍如:智力发育障碍,孤独症谱系障碍,注意缺陷多动障碍。该病病例罕见,国内外报道均较少,为了更好地认识此疾病,现报道如下。1临床资料患儿,女,4岁8月,因“语言发育迟缓3年8月”来诊。

关 键 词：神经发育障碍 髓鞘发育延迟 脑电图异常 甲状腺功能减退 

分 类 号：R322.8[医药卫生—人体解剖和组织胚胎学]