Lu X, Forte A J, Sawh-Martinez R, Wu R, Cabrejo R, Steinbacher D M, Alperovich M, Alonso N, Persing J A
Chinese Academy of Medical Sciences, Peking Union Medical College, Plastic Surgery Hospital, Beijing, China.
Division of Plastic and Reconstructive Surgery, Mayo Clinic Florida, Jacksonville, FL, USA.
Br J Oral Maxillofac Surg. 2018 Nov;56(9):864-869. doi: 10.1016/j.bjoms.2018.09.011. Epub 2018 Oct 15.
Bony malformations of the orbit and alterations to the soft tissue in Apert syndrome contribute to ophthalmic dysfunction. Recognised structural malformation of the sphenoid and ethmoid sinuses, together with corresponding deformities in the anterior and middle cranial base, are characteristic. Our aim was to explore the underlying structural components of disfigurement and the consequent development of the orbit in patients with Apert syndrome over time by studying 18 preoperative computed tomographic (CT) scans of affected patients and 36 scans from controls. Cephalometric measurements related to the orbit were collected, and analysed with Materialise software. The patients with Apert syndrome had larger than normal external orbital horizontal angles between the ages of 6 months and 2 years. The inside horizontal angle was narrower at 16.36° before 6 months, and continued to decrease into adulthood. The ethmoid and sphenoid side angles in affected patients consistently increased, starting at 7.93% and 14.68% of the external horizontal angle, respectively, during the first 6 months of age, and becoming 20.55% and 11.69%, respectively, in adulthood. In unaffected patients, both angles were less than 3% of the external horizontal angle overall. The orbital vertical angle also changed synchronously, with increasingly wide lateral orbits and shortened anteroposterior orbits. The anterior protrusion of the lateral orbital wall resulted from superior and posterior rotation of a curved, greater wing of the sphenoid, while the widened median orbital wall was caused by the widened ethmoid sinus. These resulted in bony deformities of the orbit, which predisposed to the visual impairments of Apert syndrome.
Apert综合征中眼眶的骨畸形和软组织改变会导致眼科功能障碍。蝶窦和筛窦的结构性畸形以及前颅底和中颅底的相应畸形是其特征。我们的目的是通过研究18例患Apert综合征患者的术前计算机断层扫描（CT）以及36例对照者的扫描结果，来探究随着时间推移该综合征患者容貌毁损的潜在结构成分以及眼眶的后续发育情况。收集与眼眶相关的头影测量数据，并用Materialise软件进行分析。患Apert综合征的患者在6个月至2岁之间的眶外水平角大于正常。内侧水平角在6个月前为16.36°，较窄，并持续减小直至成年。患Apert综合征患者的筛窦和蝶窦侧角持续增大，分别从出生后前6个月占眶外水平角的7.93%和14.68%，增至成年时的20.55%和11.69%。在未患病的患者中，这两个角度总体上均小于眶外水平角的3%。眼眶垂直角也同步变化，外侧眼眶变宽，前后径缩短。眶外侧壁的前突是由于蝶骨大翼弯曲部向上和向后旋转所致，而眶内侧壁变宽是由于筛窦增宽所致。这些导致了眼眶的骨畸形，进而引发了Apert综合征的视力损害。
