title: [A patient with Noonan syndrome].
abstract: Noonan syndrome is a relatively common autosomal dominant genetic disorder which is characterised by typical facial features, congenital heart diseases and small stature. In 50% of the cases the syndrome is caused by a mutation on the PTPN11-gen. The expression of symptoms associated with Noonan syndrome can be very mild in nature and facial features usually become less pronounced with age, which can sometimes make a correct diagnosis more difficult. Despite a wide range of associated symptoms most adults with Noonan syndrome can be self-sustaining, with a good quality of life. It is important that the dentist is well-informed about this syndrome due to the heart diseases and bleeding disorders which can be present with these patients and may influence a dentist's choice of therapy when invasive treatment is indicated.
authors.affiliation: Uit de afdeling Mondziekten, Kaak- en Aangezichtschirurgie van het Leids Universitair Medisch Centrum (LUMC).
authors.forename: A
authors.initials: A
authors.lastname: Bins
authors.affiliation: LUMC, Albinusdreef 2, postbus 9600, 2300 RC, Leiden.
authors.forename: R A Th
authors.initials: RA
authors.lastname: Gortzak
mesh_terms: D006470:Hemorrhage / Q000209:etiology / Q000517:prevention & control; D006801:Humans; D008297:Male; D009634:Noonan Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics; D055815:Young Adult
chemical_list: C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11
vernacular_title: Een patiënt met het syndroom van Noonan.