...Marco Cappa; Francesco d’Aniello; Maria Cristina Digilio; Maria Giulia Gagliardi; Chiara Minotti; Pier Paolo Leoncini; Alberto Pietropoli; Antonio Nicolucci; Giusi Graziano; Graziamaria Ubertini Introduction: Growth patterns in Noonan syndrome (NS) remain relatively unknown. The objective...

... hormone (GH) therapy in Noonan syndrome (NS) patients with short stature has been reported. The main objective of this study was to evaluate NAH and body mass index (BMI) evolution in a large Belgian cohort of NS patients treated for short stature. The secondary objectives were to investigate whether sex...

...Raissa C. Rezende; Renata Maria Noronha; Ana Keselman; Elisangela P.S. Quedas; Naiara C.B. Dantas; Nathalia L.M. Andrade; Debora R. Bertola; Alexsandra C. Malaquias; Alexander A.L. Jorge Introduction: Pubertal delay is described as one of the clinical features in Noonan syndrome (NS) and it may...

... hormone (GH) treatment in patients with Noonan syndrome (NS). Objective: To evaluate the effectiveness and safety of GH treatment in NS in clinical practice. Methods: Height gain, near-adult height (NAH), and safety were assessed in 2 complementary non-interventional studies: NordiNet® IOS and ANSWER...

... patients with Noonan syndrome (NS). Three patients with LZTR1 mutations of different genetic transmission and NS phenotype are herein characterized. Clinical Cases: Case 1 is a 5-year-old boy with NS phenotype. Sanger sequencing of PTPN11 and SOS1 identified no mutations. Whole exome sequencing (WES...

... or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Noonan syndrome GH treatment 1st...

...Kanthi Bangalore Krishna; Pedro Pagan; Oscar Escobar; Jadranka Popovic Noonan syndrome (NS) is associated with short stature. Growth hormone treatment has been FDA approved for use in these patients. Children with NS are at a higher risk of developing benign and malignant proliferative disorders...

...Claudio Giacomozzi; Annalisa Deodati; Mohamad Guftar Shaikh; Syed Faisal Ahmed; Stefano Cianfarani 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...

...Jacqueline A. Noonan; Anne-Marie Kappelgaard Noonan syndrome is a genetic disorder associated with short stature. We reviewed 15 studies in which growth hormone (GH) therapy was used in children with Noonan syndrome. Data show consistent increases in mean height standard deviation score (SDS...

... of genotype on the response to rhGH therapy in children with Noonan syndrome (NS). Methods: 14 male and 4 female subjects with NS with short stature, whose height was <3rd percentile, were included. The rhGH was subcutaneously administered at a dose of 66 µg/kg/day. Mutations in the PTPN11 gene were...

...Christopher J.H. Kelnar The hypothalamo-pituitary-adrenal axis has not been studied systematically in Noonan syndrome (NS), despite potential concerns about other aspects of hypothalamo-pituitary function. While adrenarche may be delayed in children with constitutional growth of puberty...

...T. Rohrer Noonan syndrome (NS) is a fairly common (1 per 1,000–2,500 live births) autosomal dominantly inherited disorder and the most common syndromal cause of congenital heart disease after Down’s syndrome. The clinical features vary with age, but typical signs of NS include characteristic facial...

...Ellen Wingbermuehle; Jos Egger; Ineke van der Burgt; Willem Verhoeven The current paper introduces concise neuropsychological assessment as an essential tool for studying the contribution of cognition and behavior in the expression of genetic syndromes, like Noonan syndrome (NS). Cognitive...

...Michael B. Ranke Short stature is one of the key features of Noonan syndrome (NS). Attempts have therefore been made to improve height by means of recombinant human growth hormone (rhGH) treatment. Most of these endeavors were carried out either as case studies or observational studies. The overall...

... (LS; mutations in PTPN11 or RAF1 ), cardio-facial-cutaneous (CFC) syndrome (mutations in KRAS,   BRAF,   MEK1 or MEK2 ), and Costello syndrome (CS; caused by mutations in HRAS ) [ 1 ]. Noonan syndrome (NS) is clinically and genetically heterogeneous. The mutations causing NS are all...

...Gerhard Binder Short stature is a major characteristic of Noonan syndrome (NS), the biological basis of which is not yet clear. In around half of all individuals with NS, the cytoplasmic tyrosine phosphatase SHP2 encoded by PTPN11 is mutated and predicted to be overactive. While SHP2 enhances Ras...

...Martin Zenker Noonan syndrome (NS) and the clinically overlapping disorders cardio-facio-cutaneous syndrome, LEOPARD syndrome, Costello syndrome and Neurofibromatosis-Noonan syndrome share the clinical features of short stature, the same spectrum of congenital heart defects, and a similar pattern...

...Otto Westphal Growth hormone treatment in Noonan syndrome increases growth velocity significantly during the first 2 years of treatment and, to some extent, until puberty. This increase is more pronounced if treatment is started at an early age. Treatment before the age of 5 years...

...B.J. Otten; C. Noordam Growth failure in Noonan syndrome is mainly postnatal of character and is dominated by slow maturation and late puberty. The postnatal early decline seems to be an intrinsic part of the syndrome. Reported adult heights are about –2 SD and are indicative of a secular trend...

...Gerhard Binder Short stature, with a mean final height almost two standard deviations below the normal mean, is a major feature of Noonan syndrome. The biological basis of the growth failure is not yet clear. The recent detection of mutations in the protein tyrosine phosphatase, non-receptor type...