Diagnosis and treatment of Noonan syndrome
10.3760/cma.j.issn.2095-428X.2014.20.005
- VernacularTitle:Noonan综合征的诊断治疗进展
- Author:
Xia LIU
;
Zhe SU
- Publication Type:Journal Article
- Keywords:
Noonan syndrome;
Distinctive facial features;
Short stature;
Congenital heart disease;
Genotype
- From:
Chinese Journal of Applied Clinical Pediatrics
2014;29(20):1531-1533
- CountryChina
- Language:Chinese
-
Abstract:
Noonan syndrome(NS) is a congenital genetic disease characterized by distinctive facial features,short stature,chest deformity,congenital heart disease,and other comorbidities.This article reviewed the research history of NS,the clinical manifestations and their relationship with genotype,the diagnosis and treatment.