Johnston C, Taussig L M, Koopmann C, Smith P, Bjelland J
Cleft Palate J. 1981 Jan;18(1):39-44.
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.
对特雷彻 - 柯林斯综合征的研究主要集中在听力和手术方面。虽然颅面畸形与婴儿期的呼吸系统疾病有关，但大龄儿童中此类问题尚未得到足够重视。一名患有特雷彻 - 柯林斯综合征的8岁儿童，近期在家中出现行为问题，在学校注意力不集中、表现不佳，白天嗜睡，并有睡眠呼吸暂停，胸部有较长时间的运动但无气流。他还存在异常睡眠行为，即双手和双膝来回摇晃，常常导致鼻子擦伤。通过重症监护病房监测观察并记录睡眠模式和声音，以及在其睡眠时利用电影X线摄影对上气道进行荧光透视，确诊为阻塞性睡眠呼吸暂停。该患者随后接受了正颌手术，在下颌骨前移后植入肋骨骨 grafts 。此手术使阻塞性睡眠呼吸暂停及相关症状消失。由于小颌畸形，特雷彻 - 柯林斯综合征患者发生阻塞性睡眠呼吸暂停的风险很高。对其畸形进行手术矫正可改善外貌，同时解决阻塞性发作问题，提高学习表现和行为能力。 （注：原文中“rib bone grafts”的“grafts”可能有误，推测应为“grafts”，直译为“移植片”，这里可能是肋骨移植，暂按此翻译，具体需结合专业知识进一步确认）
