BACKGROUND Recombinant human growth hormone (rhGH) is being used to promote linear growth in short children with Noonan syndrome. However, its efficacy is still controversial. AIMS To systematically determine the impact of rhGH therapy on adult height in children with Noonan syndrome. METHODS We searched the Cochrane Central Register of Controlled Trials, ISI Web of Science, MEDLINE, and th...

Il est important que le diagnostic soit posé à temps, car un retard ne prolonge pas seulement la souffrance de l’enfant et sa famille, mais retarde également les interventions pertinentes sur plan diagnostique thérapeutique.

N oonan syndrome (MIM 163950), an autosomal dominant disorder with an estimated prevalence of 1/1000– 2500 at birth, is characterised by short stature, facial anomalies, pterygium colli, and congenital heart disease. 2 Although pulmonary valve stenosis with dysplastic leaflets, hypertrophic cardiomyopathy, and atrial septal defects (ASD) are the most common congenital heart defects in Noonan sy...

N oonan syndrome (MIM 163950), an autosomal dominant disorder with an estimated prevalence of 1/1000– 2500 at birth, is characterised by short stature, facial anomalies, pterygium colli, and congenital heart disease. 2 Although pulmonary valve stenosis with dysplastic leaflets, hypertrophic cardiomyopathy, and atrial septal defects (ASD) are the most common congenital heart defects in Noonan sy...

Noonan syndrome is characterised by distinct facial stigmata, short stature and congenital cardiopathy. It has a high genetic heterogeneity and mutations in six different genes can be involved. We report a patient with Noonan syndrome and a novel KRAS mutation who presents systemic lupus erythematosus.

Noonan syndrome is a common autosomal dominant condition caused by multiple genes in the RasMAPK pathway. The adult phenotype can be extremely subtle, and many adults are diagnosed only after the birth of a more obviously affected child. Whether diagnosis is made in childhood or adulthood, initial and ongoing evaluation of many systems can have considerable health benefits.

Recently, we read a report about Noonan syndrome entitled “A mother and son with Noonan syndrome resulting from a PTPN11 mutation: first report of molecularly proven cases from Turkey” published in the Turkish Journal of Pediatrics (2010; 52: 321-324). The authors reported a mother and son with Noonan syndrome (NS) whose molecular analysis showed an A923G mutation in exon 8 of the PTPN11 gene. ...

Patients with Noonan syndrome are characterized by many anesthetic problems, primarily related to potential difficult airway and technical issues with regional anesthesia. We describe the anesthetic management of a difficult case of a parturient with Noonan syndrome requiring emergency Cesarean section under spinal anesthesia. We had to evaluate the patient within a limited amount of time becau...

BACKGROUND The wide variation and nonspecific nature of many of the associated ultrasonographic findings complicate prenatal diagnosis of Noonan syndrome. The aim of the present study was to define the rate of prenatal diagnosis of heart malformations in cases diagnosed postnatally with Noonan syndrome. METHODS English-language literature review of 29 cases of Noonan syndrome examined prenata...

OBJECTIVE To describe regional incidence, presentation, and outcome of idiopathic (familial) and Noonan syndrome related infant hypertrophic cardiomyopathy (HCM) between 1969 and 1994. DESIGN Case series. SETTING Regional cardiac referral unit of the South West Region of England and south Wales, population approximately four million. PATIENTS 21 cases of idiopathic (or familial) HCM, and ...