title: [The Noonan syndrome from a pediatric perspective].
abstract: Noonan syndrome is a relatively common autosomal dominant condition characterised by cardiac defects, short stature, feeding difficulties during the first year of life, and learning and behavioural problems later in life. The diagnosis is clinical and in 50% of cases it can be confirmed by a mutation in the PTPN11 gene. Studies into the effect of growth hormone treatment on final height have yet to provide any definite conclusions. Therefore, for the time being this treatment should be carried out in a research setting. Early-childhood feeding difficulties are troublesome. However, these disappear spontaneously and do not seem to negatively affect growth. Specific developmental patterns, resulting in behavioural and learning problems (non-verbal learning disability) are frequently encountered and require a specific approach.
authors.affiliation: Afd. Kinderendocrinologie, Universitair Medisch Centrum St Radboud, Postbus 9101, 6500 HB Nijmegen. c.noordam@cukz.umcn.nl
authors.forename: C
authors.initials: C
authors.lastname: Noordam
authors.forename: G
authors.initials: G
authors.lastname: Thoonen
authors.forename: C J A M
authors.initials: CJ
authors.lastname: van der Burgt
mesh_terms: D001827:Body Height / Q000187:drug effects; D002648:Child; D002658:Developmental Disabilities / Q000235:genetics; D019382:Human Growth Hormone / Q000494:pharmacology / Q000627:therapeutic use; D006801:Humans; D009154:Mutation; D009634:Noonan Syndrome / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D011628:Puberty, Delayed / Q000235:genetics
chemical_list: D019382:Human Growth Hormone; D017027:Protein Tyrosine Phosphatases
vernacular_title: Het Noonan-syndroom vanuit kindergeneeskundig perspectief.