Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associa...

Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deform...

The main facial features of NS are hypertelorism (an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the eyes), ptosis (a drooping or falling of the upper eyelid) and low-set rotated ears (Pic. 2) situated behind with a thickened helix (the prominent rim of the auricle). The cardiovascular defects most commonly associated with...

A 54-year-old woman with the Noonan syndrome was admitted with congestive heart failure and a giant right atrial thrombus with atrial septal defect detected by two-dimensional echocardiography. The thrombus vanished on oral anticoagulant therapy with warfarin. The thrombus is considered to result from hemostasis in the right atrium due to congestive heart failure and to her specific skeletal ch...

Noonan’s syndrome is an autosomal dominant genetic disorder with high phenotypic variability, characterized mainly by facial dysmorphism, congenital heart disease and short stature. We describe the case of a male patient diagnosed with Noonan’s syndrome and peripheral spondyloarthritis, a previously undescribed association in the literature. © 2013 Elsevier España, S.L.U. All rights reserved. P...

Noonan Syndrome is an autosomal dominant disorder characterized by short stature, congenital heart defects, developmental delay, dysmorphic facial features and occasional lymphatic dysplasias. The features of Noonan Syndrome change with age and have variable expression. The diagnosis has historically been based on clinical grounds. We describe a child that was born with congenital refractory ch...

Mutations in RAF1 are associated with Noonan syndrome and hypertrophic cardiomyopathy. We present two infants with Noonan syndrome and an identical RAF1 mutation, p.Ser257Leu (c.770C>T), who developed severe pulmonary arterial hypertension (PAH) that proved to be fatal. The RAF1 gene encodes Raf-1 kinase, part of the Ras/mitogen-activated kinase (MAPK) signaling pathway, which has been linked t...

Noonan syndrome is a relatively common and heterogeneous genetic disorder, including congenital heart defect in more than half of the cases. If the defect is not large, life expectancy is normal. Here we report on a case of an infant with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy with lethal outcome, in whom we identified a novel mutation in the KRAS gene. This heteroz...

Objective Increased nuchal translucency in the human fetus is associated with aneuploidy, structural malformations and several syndromes such as Noonan syndrome. In 60-70% of the Noonan syndrome cases, a gene mutation can be demonstrated. Previous research showed that aneuploid fetuses with increased nuchal translucency demonstrate an aberrant lymphatic endothelial diff erentiation. Methods Fet...

OBJECTIVE To evaluate cardiac findings in 31 Noonan syndrome patients. METHODS Thirty-one (18 males and 13 females)patients from 26 families affected with Noonan's syndrome were evaluated from the cardiac point of view with electrocardiography and Doppler echocardiography. RESULTS Twenty patients had some type of cardiac abnormality. The most frequent was pulmonary valve stenosis followed b...