Association of airway abnormalities with 22q11.2 deletion syndrome

Airway abnormalities are a common feature of 22q11.2DS, leading to substantial morbidity, particularly when combined with complex cardiac disease. Polyhydramnios may be an important prenatal clue to both the diagnosis of 22q11.2DS and airway anomalies. Postnatal assessment of airway structure and function among patients with 22q11.2DS is an important component of overall evaluation and will help guide long-term management.