Affiliation:
1. State University of Londrina, 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.
Reference10 articles.
1. Fitzpatrick's Dermatology in General Medicine;Fritsch P,2003
2. The association of keratosis pilaris atrophicans and woolly hair, with and without Noonan's syndrome;Neild VS;Br J Dermatol,1984
3. Noonan syndrome: from phenotype to growth hormone therapy;Malaquias AC;Arq Bras Endocrinol Metab,2008
4. Noonan syndrome: an update and review for the primary pediatrician;Noonan JA;Clin Pediatr,1994
5. Cardiac findings in 31 patients with Noonan's syndrome;Bertola DR;Arq Bras Cardiol,2000
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