[22q11 deletion syndrome: considerable phenotype variability].

Abstract excerpt

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...

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