%0 Case Reports
%T [Abernethy malformation associated with COACH syndrome in a patient with TMEM67 mutation: a case report].
%A Zhu B
%A Tian H
%A Song FJ
%A Li DZ
%A Liu SH
%A Dong JH
%A Lyu S
%A You SL
%A Zhu B
%A Tian H
%A Song FJ
%A Li DZ
%A Liu SH
%A Dong JH
%A Lyu S
%A You SL
%J Zhonghua Nei Ke Za Zhi
%V 61
%N 9
%D Sep 2022 1
%M 36008300
暂无%R 10.3760/cma.j.cn112138-20220107-00019
%X COACH 综合征与Abernethy畸形的关联全球鲜见报道。本文报道一例COACH 综合征联合Abernethy畸形的22岁男性患者，影像学提示门静脉纤细，胃镜提示食管静脉曲张，经颈静脉肝穿刺病理提示先天性肝纤维化伴Caroli病，脑部磁共振提示中脑水平“磨牙征”，基因检测报告提示TMEM67基因复合杂合变异。通过文献回顾，加强了医师对这些罕见疾病的认识。.