Content area


22q11-deletionssyndrom: fænotypisk meget variabelt

Læge Peter Agergaard & overlæge Charlotte Olesen Regionshospitalet Viborg, Børneafdelingen
Ugeskr Læger 2009;171(13):1047-1048
Blad nummer: 
Summary 22q11 deletion syndrome: considerable phenotype variability Ugeskr Læger 2010;172(13):1047-1048 22q11 deletion syndrome is one of the most frequent syndromes with an estimated prevalence of 1:2.000-4.000 live births. The syndrome is known to be associated with congenital cardiac malformations, hypocalcaemia and immunodeficiency. We present two cases with rhinopharyngeal insufficiency, cognitive impairment, developmental delay and behavioural problems. These symptoms are even more often associated with the syndrome than the former manifestations. Early diagnosis is important to prevent complications and provide proper support to patient and family.
Du skal være logget ind for at læse denne artikel
Log ind

Right side

af Adam Sinding | 03/07
4 kommentarer
af Helga Schultz | 01/07
2 kommentarer
af H-J Lundsgaard Sørensen | 27/06
1 Kommentar
af Per Fl. Nygaard Andresen | 25/06
27 kommentarer
af Erik Fink Eriksen | 24/06
1 Kommentar