努南综合征的一例报告并文献复习

One Case Report and Literature Review of Noonan Syndrome

努南综合征是一种常染色体显性遗传病,临床表现多样,可出现特殊面容特征、身材矮小、先天性心脏畸形、出凝血障碍、骨骼畸形、颈短或颈璞等。该病通过临床表型诊断困难,基因检测有助.于该病的精确诊断。结论:本文报道一例努南综合征患者,临床表现为肥心病,无其他特异性临床表现,通过基因测序检测到LZTR1基因存在无义突变c1276A>T,从而确诊为努南综合征。

Noonan syndrome is an autosomal dominant disorder with a variety of clinical manifestations,including special facial features,short stature,congenital heart malformations,coagulation disorders,skeletal deformities,short neck or neck pus.It is difficult to diagnose the disease by clinical phenotype,and genetic testing helps to accurately diagnose the disease.Conclusion:This article reports that a patient with Noonan syndrome with clinical manifestations of hypertrophic heart disease and no other specific clinical manifestations detected the nonsense mutation c.1276A>T in LZTR1 gene by gene sequencing,thus confirming Noonan syndrome.