Wink Jason D, Bastidas Nicholas, Bartlett Scott P
Division of Plastic Surgery, The Perelman School of Medicine at the University of Pennsylvania, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
J Craniofac Surg. 2013 Jul;24(4):1408-10. doi: 10.1097/SCS.0b013e31828dcf09.
Apert syndrome carries a characteristic phenotype of midface hypoplasia, syndactyly, craniosynostosis, and developmental delay. These patients frequently require a large number of surgical procedures to produce a functional and aesthetically pleasing correction of their facial deformities. Although most of the focus for surgical planning is allocated to the cranial vault and the midface, controversy exists as to whether the mandible is intrinsically abnormal in this population.A retrospective chart review was performed to identify patients with Apert syndrome cared for at The Children's Hospital of Philadelphia. Patients with available craniofacial computed tomographic scans after skeletal maturity were examined using cephalometric and three-dimensional volumetric techniques. A comparison was made to age- and demographically matched controls, and statistical significance was determined using the Student t test (P < 0.05).Thirty-eight patients, in total, were identified, 9 of which had available three-dimensional computed tomographic scans. Most patients underwent frontal-orbital advancement in their infancy and at least 1 midface procedure later in life. Three-dimensional volumetric analysis identified a decreased maxillary volume (P = 0.03) in the population with Apert syndrome but found no difference in the mandibular volume (P = 0.59). Cephalometric analysis demonstrated that the patients with Apert syndrome have normal ramal height but a statistically significant decreased mandibular length.The mandible with Apert syndrome seems to be intrinsically normal on the basis of our three-dimensional analysis, and differences in appreciated mandibular length are likely related to the interrelationship with the maxilla. Patients can therefore be instructed that improving the midface position may likely also reduce the compensatory mandibular deformity.
Apert综合征具有面中部发育不全、并指（趾）畸形、颅缝早闭和发育迟缓的典型表型。这些患者经常需要进行大量外科手术，以对面部畸形进行功能和美观上令人满意的矫正。尽管外科手术规划的大部分重点都放在颅顶和面中部，但对于该人群下颌骨是否存在内在异常仍存在争议。
我们进行了一项回顾性病历审查，以确定在费城儿童医院接受治疗的Apert综合征患者。对骨骼成熟后有可用颅面部计算机断层扫描的患者，使用头影测量和三维容积技术进行检查。与年龄和人口统计学匹配的对照组进行比较，并使用学生t检验确定统计学意义（P < 0.05）。
总共确定了38例患者，其中9例有可用的三维计算机断层扫描。大多数患者在婴儿期接受了额眶前移手术，在生命后期至少接受了1次面中部手术。三维容积分析发现Apert综合征患者的上颌骨体积减小（P = 0.03），但下颌骨体积无差异（P = 0.59）。头影测量分析表明，Apert综合征患者的下颌支高度正常，但下颌骨长度在统计学上显著缩短。
根据我们的三维分析，Apert综合征患者的下颌骨似乎在本质上是正常的，下颌骨长度的明显差异可能与上颌骨的相互关系有关。因此，可以告知患者，改善面中部位置可能也会减少代偿性下颌骨畸形。
