Laryngeal web with 22q11.2 deletion syndrome

Abstract

Laryngeal web is a rare congenital or acquired disease that results in airway stenosis. Depending on the severity of atresia, patients with laryngeal web show a wide variety of symptoms ranging from asymptomatic to life-threatening respiratory dysfunction that may require emergency tracheostomy immediately after birth. We report a neonatal case of laryngeal web with 22q11.2 deletion syndrome. Post-delivery, the infant showed dysphonia and had a ventricular septal defect with characteristic craniofacial features. The infant underwent an endoscopic incision of the web and cardiac surgery. Among patients with laryngeal web, 30% have 22q11.2 deletion syndrome. 22q11.2 deletion syndrome is the most common chromosomal microdeletion syndrome and the second most common chromosomal abnormality associated with congenital heart disease. Therefore, if an infant has laryngeal web with comorbidities such as congenital heart disease, 22q11.2 deletion syndrome should be considered in differential diagnosis.