家族性Holt-Oram综合征1例并文献复习

doi:10.3969/j.issn.1004-583X.2023.01.011

摘要/Abstract

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。

关键词: Holt-Oram综合征, 先天性心脏病, 上肢畸形, TBX5基因, 儿童

Abstract:

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.

Key words: Holt-Oram syndrome, congenital heart disease, upper limb malformation, TBX5 genes, children

中图分类号:

R722.11

刘玉清, 程佶. 家族性Holt-Oram综合征1例并文献复习[J]. 临床荟萃, 2023, 38(1): 71-74.

Liu Yuqing, Cheng Ji. Familial Holt-Oram syndrome: Report of a case & literature review[J]. Clinical Focus, 2023, 38(1): 71-74.

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链接本文: https://huicui.hebmu.edu.cn/CN/10.3969/j.issn.1004-583X.2023.01.011

https://huicui.hebmu.edu.cn/CN/Y2023/V38/I1/71

图/表 2

图1 患儿先天性心脏病的超声心动图表现 a.心尖五腔心切面可见膜周部室间隔缺损(↑);b.剑突下双房切面,可见房间隔缺损(↑)

Fig. 1 Echocardiographic findings of congenital heart disease in children a. perimembranous ventricular septal defect on the apical five-chamber incisor plane (↑); b. Bilateral section of xiphoid process below, showing atrial septal defect (↑)

图2 患儿上肢畸形的临床表现及影像学异常 a.左手拇指缺如,左上肢自然位腕部向桡侧屈曲;b、c.右手及左手拇指缺如;d.左侧尺桡骨近端融合(↑)

Fig. 2 Clinical manifestations and imaging abnormalities of upper limb deformity in the child a. Left thumb missing, left arm flexion to the radial side in natural position; b、c. Absence of right and left thumbs; d. Proximal fusion of left ulna and radius (↑)

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