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Cuadernos Hospital de Clínicas
versão impressa ISSN 1562-6776
Resumo
AGUILAR-MERCADO, Ximena et al. Clinical manifestations in Noonan syndrome. Report of 4 cases. Cuad. - Hosp. Clín. [online]. 2024, vol.65, n.2, pp.53-57. ISSN 1562-6776. https://doi.org/10.53287/bzdi6432vu99i.
Noonan syndrome is a genetic condition characterized by mutations in one of the RAS/MAPK signaling pathway genes. The incidence of NS is estimated in 1:1000 to 1:2500 live births. Clinically, the Van der Burgt criteria allow us to suspect the syndrome, these criteria includes: family history of the condition, distinctive facial features, short stature, congenital heart malformations, and thoracic malformations.
Case reports.
In this article, we present four patients clinically diagnosed with Noonan and we compare them with other reports in the literature.
Discussion
. In our series, all patients represent de novo cases and showing great clinical variability.
Palavras-chave : Noonan syndrome; Van der Burgt criteria; syndromic short stature; congenital heart disease; café au lait spots; RAS/MAPK.
