Do you know this syndrome? Noonan syndrome.

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.

journal_name

An Bras Dermatol

authors

Kondo RN,Martins LM,Lopes VC,Bittar RA,Araújo FM

doi

10.1590/abd1806-4841.20131934

subject

Has Abstract

pub_date

2013-07-01 00:00:00

pages

664-6

issue

4

eissn

0365-0596

issn

1806-4841

pii

S0365-05962013000400664

journal_volume

88

pub_type

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