FMD2综合征1例遗传学与临床特征

Genetic and Clinical Characteristics of Frontometaphyseal Dysplasia 2:A Case Report

目的探讨FMD2综合征的临床表现与影像学。方法1例FMD2综合征病患者在2019年11月于烟台毓璜顶医院就诊,分析其临床症状、影像学表现及基因检测信息分析FMD2的临床特征。结果患者8岁,头面部畸形,咳嗽、呼吸困难,基因检测分析发现MAP3K7基因变异,确诊为FMD2。结论FMD2综合征是一种罕见的常染色体显性遗传病,通过患者典型的临床特征表现及MAP3K7基因突变确诊。

Objective To investigate the clinical manifestations and imaging of fmd2 syndrome.Methods a child with fmd2 syndrome was found in Yantai Yuhuangding hospital in November 2019.The clinical features were analyzed by clinical manifestations,imaging examination and gene detection.Results The patient complained of 8 years old,head and face deformity,cough and dyspnea.Through gene detection and analysis,map3k7 gene mutation was found,and fmd2 was diagnosed.Conclusion Fmd2 syndrome is a rare autosomal dominant disease.It is finally diagnosed through the typical clinical characteristics of children and map3k7 gene mutation.