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Artigo Acesso aberto Produção Nacional Revisado por pares
BIBTEX RIS

Do you know this syndrome?

2013; Elsevier BV; Volume: 88; Issue: 4 Linguagem: Inglês

10.1590/abd1806-4841.20131934

ISSN

1806-4841

Autores

Rogério Nabor Kondo, Lígia Márcia Mário Martin, Vivian Cristina Holanda Lopes, Rodrigo Antonio Bittar, Fernanda Mendes Araújo,

Tópico(s)

RNA modifications and cancer

Resumo

Noonan Syndrome is one of the most common genetic syndromes and also an important differential diagnosis in children presenting with syndromic facies similar to Turner's syndrome phenotype. This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature and also a wide phenotypic variation. This article discusses the case of a 10 year-old patient with Noonan syndrome that presented typical facies, cardiac defects (pulmonary dilatation and mitral regurgitation), dental malocclusion, micrognatism, short stature and a certain degree of learning disability.

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