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22q11-deletionssyndrom: fænotypisk meget variabelt

Forfatter(e)
Læge Peter Agergaard & overlæge Charlotte Olesen Regionshospitalet Viborg, Børneafdelingen
Reference: 
Ugeskr Læger 2009;171(13):1047-1048
Blad nummer: 
Sidetal: 
1047-1048
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.
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