期刊
PEDIATRICS
卷 126, 期 4, 页码 746-759出版社
AMER ACAD PEDIATRICS
DOI: 10.1542/peds.2009-3207
关键词
Noonan syndrome; PTPN11; SOS1; BRAF; KRAS; NRAS; RAF1; SHOC2; Ras/MAPK signal transduction; congenital heart disease; short stature
类别
资金
- Novo Nordisk
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 similar to 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. Pediatrics 2010;126:746-759
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