Structural airway anomalies in patients with DiGeorge syndrome: a current review

DiGeorge Syndrome is a genetic disorder characterized by either absence or hypoplasia of the thymus and the parathyroid glands. Patients with this syn drome also have a high incidence of cardiovascular malformations and facial dysmorphism. Structural airway anomalies have also been described, albeit infrequently. Tracheoesophageal fistula, short trachea with reduced numbers of tracheal rings, abnormal thyroid cartilage, laryngomalacia, tracheomala cia, and bronchomalacia have been recognized in these patients. We review a ll previously reported patients with DiGeorge syndrome and lower airway ano malies. In addition, we present 2 patients with DiGeorge syndrome who were each found to have an aberrant right tracheal bronchus. Structural airway a nomalies can be a cause of morbidity and mortality in patients with DiGeorg e syndrome. Prompt, thorough evaluation of the upper and lower airway in th ese patients is essential.