Progress in the diagnosis and treatment of Noonan syndrome

  • LIU Xiaoliang
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  • Department of Cardiology, Shanghai Children’s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200127, China

Received date: 2016-01-15

  Online published: 2016-01-15

Abstract

 Noonan syndrome (NS) is an autosomal dominant hereditary disease characterized by distinctive facial features, congenital cardiac defects, short stature, growth retardation, learning disability, and other comorbidities. About 70%-80% of patients with NS were associated with gene mutations (eg, PTPN11) in mitogen-activated protein kinase signal pathway (RASMAPK). In this article, the progress in the pathogenesis, diagnosis, treatment and genetics of NS in recent years was reviewed.

Cite this article

LIU Xiaoliang . Progress in the diagnosis and treatment of Noonan syndrome[J]. Journal of Clinical Pediatrics, 2016 , 34(1) : 64 . DOI: 10.3969 j.issn.1000-3606.2016.01.017

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