临床荟萃
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摘要： Noonan综合征是一种相对常见的常染色体显性遗传病，Noonan综合征遗传异质性很大，涉及多个学科，主要临床特征包括身材矮小、颅颌面畸形、先天性心脏缺陷、认知障碍等，还可以伴发一系列血液系统疾病，患肿瘤风险较普通人群增高。重组人生长激素治疗可协助改善Noonan综合征患者身高，同时需多学科协作，治疗其他系统存在的先天异常。本文总结Noonan综合征的临床特点和相关基因突变，以期为临床提供参考。
关键词: 短肋多指(趾)畸形综合征, 面容, 心脏缺损, , 先天性, 生长激素
Abstract: Noonan syndrome is a relatively common autosomal dominant genetic disease. Genetic heterogeneity of Noonan syndrome has a large rang and involves multiple disciplines. Its main clinical features includes short stature, craniomaxillofacial deformity, congenital heart defects, and cognitive impairment. It can also be accompanied by a series of diseases of the blood system, and patients with Noonan syndrome have a higher risk of cancer compared to the general population. Recombinant human growth hormone therapy can help improve the height of patients with Noonan syndrome and requires multidisciplinary treatment of congenital abnormalities in other systems.The clinical characteristics and related gene mutations of Noonan syndrome were summarized so as to provide a reference for clinic research.
Key words: short ribpolydatyly syndrome, faces, heart defects, , congenital, growth hormone
崇禾萌，张会丰. 综合征的诊断和治疗[J]. 临床荟萃, doi: 10.3969/j.issn.1004-583X.2019.10.005.
Chong Hemeng, Zhang Huifeng. Diagnosis and treatment of Noonan syndrome[J]. Clinical Focus, doi: 10.3969/j.issn.1004-583X.2019.10.005.
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链接本文: https://huicui.hebmu.edu.cn/CN/10.3969/j.issn.1004-583X.2019.10.005
https://huicui.hebmu.edu.cn/CN/Y2019/V34/I10/889
