家族性Holt-Oram综合征1例并文献复习  

Familial Holt-Oram syndrome:Report of a case&literature review

作　　者：刘玉清 程佶[1] Liu Yuqing;Cheng Ji(Department of Cardiology,Tianjin Children’s Hospital/Tianjin University Children’s Hospital,Tianjin 300074,China)

机构地区：[1]天津市儿童医院/天津大学儿童医院心脏中心,天津300074

出　　处：《临床荟萃》2023年第1期71-74,共4页Clinical Focus

摘　　要：目的探讨Holt-0ram综合征的临床特点及诊疗预后。方法对有上肢骨骼畸形的患儿,行超声心动图及影像学检查,并对其父母及患儿进行了全外显子组测序全基因。结果患儿存在先天性心脏病,并检测到先证者12q24.21区域存在约0.6 Kb的片段杂合缺失,遗传自母亲,结合其临床特点,诊断为Holt-Oram综合征。结论对存在上肢骨骼畸形患儿,需要注意Holt-Oram综合征,注意其存在心脏疾患可能,以帮助其早期诊断治疗及遗传咨询。Objective To explore the clinical manifestations and prognosis of Holt-Oram syndrome.Methods Echocardiography and imaging examination were performed for children with skeletal malformation of upper,and the whole-exome sequencing and whole-genome sequencing were performed for parents and children.Results The patient was born with congenital heart disease,the fragment heterozygosis loss(FHL)sized in approximate 0.6 Kb was detected in proband’s 12q24.21 region,and FHL was inherited from the mother,while Holt-Oram syndrome was diagnosed in combination with the clinical manifestations.Conclusion It is necessary to pay attention to Holt-Oram syndrome and possibility of heart disease in children with skeletal malformation of upper,with the aim of promoting early diagnosis&treatment and genetic counseling on children.

关 键 词：HOLT-ORAM综合征 先天性心脏病 上肢畸形 TBX5基因 儿童 

分 类 号：R722.11[医药卫生—儿科]