Structural Airway Anomalies in Patients With DiGeorge Syndrome: A Current Review

Am J Otolaryngol. Sep-Oct 2000;21(5):326-30. doi: 10.1053/ajot.2000.16166.


DiGeorge Syndrome is a genetic disorder characterized by either absence or hypoplasia of the thymus and the parathyroid glands. Patients with this syndrome 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, tracheomalacia, and bronchomalacia have been recognized in these patients. We review all previously reported patients with DiGeorge syndrome and lower airway anomalies. In addition, we present 2 patients with DiGeorge syndrome who were each found to have an aberrant right tracheal bronchus. Structural airway anomalies can be a cause of morbidity and mortality in patients with DiGeorge syndrome. Prompt, thorough evaluation of the upper and lower airway in these patients is essential.

Publication types

  • Review

MeSH terms

  • DiGeorge Syndrome / diagnosis*
  • DiGeorge Syndrome / genetics*
  • Esophageal Atresia / diagnosis
  • Failure to Thrive / diagnosis
  • Gastroesophageal Reflux / diagnosis
  • Humans
  • Hydronephrosis / diagnosis
  • Respiratory Insufficiency / diagnosis
  • Thyroid Gland / abnormalities