Do you know this syndrome? Noonan syndrome
Rogerio Nabor Kondo1, Ligia Márcia Mario Martins, Vivian Cristina Holanda Lopes
1Hospital Universitário Regional do Norte do Paraná, State University of Londrina, Londrina(PR),Brazil.
Abstract:
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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