Pharyngeal hypoplasia in Treacher Collins syndrome.

Examination of 11 patients with Treacher Collins syndrome (TCS), with the use of multiple-view videofluoroscopy and nasopharyngoscopy of the pharynx, disclosed marked narrowing of the airway. In several patients, the pharynx was less than 1 cm in width at its most narrow point. It is thought that reduced airway in TCS may help to explain the frequent reports of neonatal death associated with the syndrome. Pharyngeal narrowing was found throghout the entire vertical height of the pharynx in all 11 patients. Pharyngeal hypoplasia is probably responsible for reported difficulties in intubating patients with TCS for endotracheal anesthesia and for respiratory complications after palatoplasty and pharyngoplasty. Pharyngeal hypoplasia is considered to be a primary feature of the syndrome and may aid in its diagnosis.