Obstructive sleep apnea in Treacher-Collins syndrome.
Studies of the Treacher-Collins syndrome have emphasized hearing and surgical considerations. Although craniofacial anomalies have been associated with respiratory disorders in infancy, the presence of such problems in older children has not been emphasized. An eight-year-old with Treacher-Collins syndrome presented a history of recent behavioral problems at home, poor attention span and performance in school, daytime somnolence, and sleep apnea with relatively long periods of chest movement but no airflow. He also had abnormal sleep behavior consisting of rocking to and fro on his hands and knees, often to such an extent that his nose became abraded. ICU monitoring with observation  and recording of sleep patterns and sounds, and fluoroscopy of his upper airway utilizing cineradiography while asleep confirmed the diagnosis of obstructive sleep apnea. The patient subsequently underwent an orthognathic surgery consisting of insertion of rib bone grafts after anterior advancement of his mandible. This procedure resulted in disappearance of the obstructive sleep apnea and associated symptoms. Because of micrognathia, patients with Treacher-Collins syndrome are at high risk for developing obstructive sleep apnea. Surgical correction of their deformities can result in improvement in cosmetic appearance as well as in resolution of the obstructive episodes with improvement in performance and behavior.
D000402:Airway Obstruction / Q000209:etiology; D002648:Child; D006801:Humans; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000150:complications*; D008844:Micrognathism / Q000150:complications; D012891:Sleep Apnea Syndromes / Q000209:etiology*; D014059:Tongue / Q000503:physiopathology