Resumo

RETANA GAMBOA, Viviana  e  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.

Palavras-chave : Noonan Syndrome; Congenital Heart Disease; PTPN11; SHP2; Growth Hormone.