Noonan综合征病合并遗传性牙龈纤维瘤病1例  

Noonan syndrome disease with hereditary gingival fibromatosis:A case report

作　　者：刘娇艳 王卫红[1] LIU Jiaoyan;WANG Weihong(Department of Oral and Maxillofacial Surgery,Affiliated Stomatology Hospital of Kunming Medical University,650106,China)

机构地区：[1]昆明医科大学附属口腔医院口腔颌面外科,650106

出　　处：《实用口腔医学杂志》2023年第4期541-543,共3页Journal of Practical Stomatology

基　　金：云南省卫健委医学领军人才项目(编号:L-201801);云南省省级创新团队项目(编号:202105AE160004)。

摘　　要：Noonan综合征合并遗传性牙龈纤维瘤是一种罕见的遗传病,临床表现多样化,容易误诊。该文报道1例12岁男性患者存在SOS 1基因突变(NM_005633.4:exon13:c.2167+17->T),该突变位点为新突变。基于临床、影像学表现及全外显子基因检测,临床诊断为Noonan综合征合并遗传性牙龈纤维瘤病。A rare genetic disease called Noonan syndrome with hereditary gingival fibroma has a variety of clinical manifestations and is frequently misinterpreted.Here,a case of a 12-year-old boy with a new mutation in the SOS 1 gene(NM 005633.4:exon13:c.2167+17->T)is described.Based on clinical,imaging and whole exon genetic testing data,the clinical diagnosis of Noonan syndrome with hereditary gingival fibromatosis was established.

关 键 词：NOONAN综合征 遗传性牙龈纤维瘤 家族性巨颌症 SOS1基因 

分 类 号：R739.8[医药卫生—肿瘤]