Resumo

ORTIZ VASQUEZ, Daniela Solange; BUSTAMANTE CABRERA, Gladys  e  QUIROZ GUTIERREZ, Belén. SINDROME DE NOONAN (SN). Rev. Act. Clin. Med [online]. 2014, vol.45, pp. 2378-2383. ISSN 2304-3768.

ABSTRACT Noonan syndrome (NS) is an autosomal dominant genetic disorder type, in which there is a mutation of the PTPN11 gene, which is replaced by another nucleotide, generating alterations in protein tirosin phosphato. This syndrome is preferably transmitted by the father, and affects males, presents particular clinical characteristics, as triangular facies, occasionally rounded, hypertelorism, broad nose, micrognathia, pterigum colli, growth retardation, pectus excavatum or carinatum, scoliosis, lymphatic and cardiac abnormalities, which are sometimes confused with the diagnosis of golds syndromes such as Turner syndrome, Costello, Leopard, etc.., that while they have differences in the karyotype identification, and clinical expressions, are by some authors SN considered variants. Exceptionally patients with this clinical picture are limited in their daily activities, unless the clinical manifestations denoting great severity, limiting the patient. In general, sings and symptoms are reduced significantly in adulthood, becoming inconspicuous, so that treatment based on growth hormone, may be elected only in cases where a marked retardation of physical growth is observed.

Palavras-chave : Noonan syndrome; Ilrich syndrome; Urlich syndrome male Turner syndrome.