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.
Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines
FINANCIAL DISCLOSURE: Dr Romano is a consultant to both Genentech, Inc and Novo Nordisk, Inc and also participates on the speaker's bureaus of both companies; Dr Dahlgren received grants in 2008 from Novo Nordisk, Inc for genetic analysis of individuals with NS; Dr Gelb currently has SOS1, RAF1, and SHOC2 gene patents pending and receives royalties for PTPN11 mutation testing from GeneDx, Correlegan, Prevention Genetics, Baylor College of Medicine, and Harvard Partners; and Dr Roberts currently has an SOS1 gene patent pending. The other authors have indicated they have no financial relationships relevant to this article to disclose.
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Alicia A. Romano, Judith E. Allanson, Jovanna Dahlgren, Bruce D. Gelb, Bryan Hall, Mary Ella Pierpont, Amy E. Roberts, Wanda Robinson, Clifford M. Takemoto, Jacqueline A. Noonan; Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines. Pediatrics October 2010; 126 (4): 746–759. 10.1542/peds.2009-3207
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