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REVIEW ARTICLE
Noonan syndrome and Rasopathies: clinical features, diagnosis and management
Beom Hee Lee1, Yoo Han Wook1
1Department of Pediatrics, Genome Research Center for Birth Defects and Genetic Disorders, Medical Genetics Center, Asan Medical Center Childrens Hospital, University of Ulsan College of Medicine, Seoul, Korea
Corresponding Author: Yoo Han Wook ,Tel: 02-3010-3374, Fax: 02-473-3725, Email: hwyoo@amc.seoul.kr
Copyright © by The Korean Pediatric Society
ABSTRACT
Noonan syndrome (NS) and NS-related disorders (Cardio-Facio-Cutaneous (CFC) syndrome, Costello syndrome, LEOPARD (Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth and sensory neural Deafness) syndrome share common clinical features characterized by unique facial features, postnatal growth failure, psychomotor retardation, ectodermal abnormalities, congenital heart diseases, chest & skeletal deformity and delayed puberty. During last decade, strident progress has been made in molecular understanding of NS. The functional alterations of the Ras-mitogen-activated protein kinase (MAPK) pathway are caused by the mutation in more than 10 genes (PTPN11, SOS1, RAF1, SHOC2, BRAF, KRAS, NRAS, HRAS, MEK1, MEK2). Therefore, NS and NS-related disorders are called RASopathies as a disease group. PTPN11 (40-50%), SOS1 (10%–20%), and RAF1 (3%-17%) mutations are common in NS patients. In this review, the constellation of overlapping clinical features of RASopathies will be described based on genotype as well as their differential diagnostic points and management.
Keywords: Noonan syndrome | Mutation | Cardiofaciocutaneous syndrome | Costello syndrome | LEOPARD syndrome
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Headaches in children and adolescents : diagnosis and treatment  2006 April;49(4)
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