[22q11 deletion syndrome: considerable phenotype variability].
22q11 deletion syndrome is one of the most frequent syndromes with an estimated prevalence of 1:2000-4000 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.
Agergaard
Peter
P
Børneafdelingen, Regionshospitalet Viborg, DK-8800 Viborg, Denmark. peteragergaard@dadlnet.dk
Olesen
Charlotte
C
D002675:Child, Preschool; D004062:DiGeorge Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D042241:Early Diagnosis; D005260:Female; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D010641:Phenotype; D012944:Social Support