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Ned Tijdschr Geneeskd. 2003 Apr 5;147(14):644-8.

[The Noonan syndrome from a pediatric perspective].

[Article in Dutch]

Author information

  • 1Afd. Kinderendocrinologie, Universitair Medisch Centrum St Radboud, Postbus 9101, 6500 HB Nijmegen. c.noordam@cukz.umcn.nl

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.

PMID:
12712646
[PubMed - indexed for MEDLINE]
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