Noonan syndrome have been suggested by Levy and associates, who reported the first case of male to male transmission of this condition and postulated that in some families it may be transmitted in an autosomal dominant manner with variable expressivity(9). Baird and Dejong have subsequently reported a family in which the syndrome was transmitted through three generations in a dominant manner(10...

INTRODUCTION One in fifty children is born with significant congenital abnormality [1]. Some have multiple anomalies constituting a specific dysmorphic syndrome. Of 5,000 or so dysmorphic syndromes, over 700 involve dental, oral or craniofacial differences. Dysmorphic craniofacial features include extended distance between eyes (telecanthus) or pupils (hypertelorism); inner/outer eye corners at...

latively common hereditary syndrome with characteristic facial features and cardiovascular manifestations, with a large variety of clinical features. Congenital heart diseases are present in 50% of cases and congenital pulmonary stenosis, valvular or subvalvular, is the most common. In less than 20% of cases we also observe dysplasia of the lymph vessels. The case we present refers to a young a...

A 4-year-old boy with the Ullrich-Noonan syndrome is described. Asymmetric septal hypertrophy was diagnosed by echocardiography and confirmed at cardiac catheterisation. The aortic subvalvar gradient was reduced from 56 mmHg to 10 mmHg with intravenous propranolol. Relatives of patients with the syndrome should be screened by echocardiography in the hope that the early detection of asymmetric ...

RAS genes encode a family of 21 kDa proteins that are an essential hub for a number of survival, proliferation, differentiation and senescence pathways. Signaling of the RAS-GTPases through the RAF-MEK-ERK pathway, the first identified mitogen-associated protein kinase (MAPK) cascade is essential in development. A group of genetic syndromes, named "RASopathies", had been identified which are ca...

We report a case of an 8-year-old girl who presented with bilateral central giant cell granulomas of the posterior mandible. Characteristic facial features and a history of pulmonary stenosis led us to suspect a diagnosis of Noonan syndrome. A medical geneticist confirmed this. This case report will discuss the salient features of this diagnosis.

The term, Hypoplastic Left Heart Syndrome (HLHS), initially proposed by Noonan and Nadas,8 describes a diminutive left ventricle with underdevelopment of mitral and aortic valves. A patent foramen ovale or an atrial septal defect is usually present. The ventricular septum is usually intact. A large patent ductus arteriosus supplies blood to the systemic circulation. Coarctation of the aorta is ...