Servicios Personalizados
Revista
Articulo
Indicadores
- Citado por SciELO
- Accesos
Links relacionados
- Similares en SciELO
Compartir
Medicina Legal de Costa Rica
versión On-line ISSN 2215-5287versión impresa ISSN 1409-0015
Resumen
RETANA GAMBOA, Viviana y SEGURA AGUERO, Laura. Síndrome de Noonan. Med. leg. Costa Rica [online]. 2014, vol.31, n.1, pp.129-133. ISSN 2215-5287.
Noonan Syndrome is a relative common autosomic dominant congenital disorder, with an incidence between 1:1,000 and 1:2,500 children worldwide. The gen is in 12q22 chromosome. The principal features include short stature, typical facial dysmorphology and congenital heart disease, among others. The range and severity of features can vary greatly in patients with NS, therefore, establishing a diagnose is difficult. The syndrome is not always identified at an early age, and many times misdiagnosed.
Palabras clave : Noonan Syndrome; Congenital Heart Disease; PTPN11; SHP2; Growth Hormone.