Pickrell Brent B, Meaike Jesse D, Cañadas Karina T, Chandy Binoy M, Buchanan Edward P
*Division of Plastic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine †Department of Otolaryngology, Texas Children's Hospital, Houston, TX.
J Craniofac Surg. 2017 May;28(3):696-699. doi: 10.1097/SCS.0000000000003489.
Tracheal cartilaginous sleeve (TCS) is a rare and previously unrecognized source of morbidity and mortality in patients with certain craniosynostosis syndromes. There is a paucity of reporting on this airway anomaly, and the true incidence of TCS is largely unknown. The purpose of this study was to investigate the incidence of TCS among patients with syndromic craniosynostosis at our institution. Patients with syndromic craniosynostosis who underwent direct bronchoscopy and laryngoscopy were evaluated retrospectively by pediatric otolaryngologists for the presence of TCS and associated anomalies. Among patients with a diagnosis of syndromic craniosynostosis in our craniofacial database, 10 (37%) were found to have previous direct bronchoscopy and laryngoscopy reports. Of these 10 patients, 2 had Crouzon syndrome, 3 had Pfeiffer syndrome, 3 had Apert syndrome, 1 had Muenke syndrome, and 1 had Antley-Bixler syndrome. Eighty percent (8/10) of these patients were found to have some evidence of TCS. The most commonly observed associated findings included the following: tracheostomy dependency (7/10; 70%), hearing loss (6/10; 60%), obstructive sleep apnea (5/10; 50%), cervical spine anomalies (5/10; 50%), developmental delay (5/10; 50%), and enlarged cerebral ventricles (4/10; 40%). Larger multicenter studies are required to further characterize this airway anomaly and its impact on this patient population. Our results confirm the importance of thorough airway evaluation at initial presentation and the need for validated screening protocols.
气管软骨套（TCS）是某些颅缝早闭综合征患者中一种罕见且此前未被认识到的发病和死亡原因。关于这种气道异常的报道很少，TCS的真实发病率很大程度上未知。本研究的目的是调查我院综合征性颅缝早闭患者中TCS的发病率。对接受直接支气管镜和喉镜检查的综合征性颅缝早闭患者，由儿科耳鼻喉科医生进行回顾性评估，以确定是否存在TCS及相关异常。在我们颅面数据库中诊断为综合征性颅缝早闭的患者中，有10例（37%）有先前的直接支气管镜和喉镜检查报告。在这10例患者中，2例患有克鲁宗综合征，3例患有费弗综合征，3例患有阿佩尔综合征，1例患有蒙克综合征，1例患有安特利-比克斯勒综合征。这些患者中有80%（8/10）被发现有TCS的某些证据。最常见的相关发现包括：依赖气管造口术（7/10；70%）、听力丧失（6/10；60%）、阻塞性睡眠呼吸暂停（5/10；50%）、颈椎异常（5/10；50%）、发育迟缓（5/10；50%）和脑室扩大（4/10；40%）。需要更大规模的多中心研究来进一步描述这种气道异常及其对该患者群体的影响。我们的结果证实了在初次就诊时进行全面气道评估的重要性以及采用经过验证的筛查方案的必要性。
