| Literature DB >> 24068150 |
Rogerio Nabor Kondo1, Ligia Márcia Mario Martins, Vivian Cristina Holanda Lopes, Rodrigo Antonio Bittar, Fernanda Mendes Araújo.
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.Entities:
Mesh:
Year: 2013 PMID: 24068150 PMCID: PMC3760954 DOI: 10.1590/abd1806-4841.20131934
Source DB: PubMed Journal: An Bras Dermatol ISSN: 0365-0596 Impact factor: 1.896