Department of Pediatrics, Munger Pavilion, Room 123, New York Medical College, Valhalla, NY 10595, USA.
Pediatrics. 2010 Oct;126(4):746-59. doi: 10.1542/peds.2009-3207. Epub 2010 Sep 27.
Noonan syndrome (NS) is a common, clinically and genetically heterogeneous condition characterized by distinctive facial features, short stature, chest deformity, congenital heart disease, and other comorbidities. Gene mutations identified in individuals with the NS phenotype are involved in the Ras/MAPK (mitogen-activated protein kinase) signal transduction pathway and currently explain ∼61% of NS cases. Thus, NS frequently remains a clinical diagnosis. Because of the variability in presentation and the need for multidisciplinary care, it is essential that the condition be identified and managed comprehensively. The Noonan Syndrome Support Group (NSSG) is a nonprofit organization committed to providing support, current information, and understanding to those affected by NS. The NSSG convened a conference of health care providers, all involved in various aspects of NS, to develop these guidelines for use by pediatricians in the diagnosis and management of individuals with NS and to provide updated genetic findings.
努南综合征（Noonan syndrome，NS）是一种常见的、具有临床和遗传异质性的疾病，其特征为独特的面部特征、身材矮小、胸廓畸形、先天性心脏病和其他合并症。具有 NS 表型的个体中的基因突变涉及 Ras/MAPK（丝裂原活化蛋白激酶）信号转导途径，目前可解释约 61%的 NS 病例。因此，NS 通常仍为临床诊断。由于临床表现的多样性和多学科护理的需求，全面识别和管理该病至关重要。努南综合征支持小组（Noonan Syndrome Support Group，NSSG）是一个非营利组织，致力于为受 NS 影响的人群提供支持、最新信息和理解。NSSG 召集了一组医疗保健提供者，他们都参与 NS 的各个方面，制定这些指南，供儿科医生用于诊断和管理 NS 患者，并提供最新的遗传发现。
