Lu Xiaona, Forte Antonio Jorge, Sawh-Martinez Rajendra, Wu Robin, Cabrejo Raysa, Gabrick Kyle, Steinbacher Derek M, Alperovich Michael, Alonso Nivaldo, Persing John 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.
J Craniofac Surg. 2019 Mar/Apr;30(2):317-325. doi: 10.1097/SCS.0000000000004836.
Complicated craniofacial malformations interfacing with multiple intracellular regulatory mechanisms, lead to ambiguous growth patterns in Apert syndrome. This study aims to explore the chronology and pathogenesis of the development of craniofacial anatomic relationships and to verify the positional correlates between skull and facial structures in Apert syndrome. Fifty-four computed tomography scans (Apert, n = 18; control, n = 36) were included and divided into 3 age subgroups. Craniofacial 3-dimensional cephalometries were analyzed by Materialize software. The angle between sella-nasion plane and maxillary plane widens 7.74° (P = 0.003) prior to 6 months of age; thereafter, this widening increases by 10.36° (P < 0.001) in 6 months to 2 years of age, and remains increased by 8.9° (P = 0.046) throughout childhood. The angle between Frankfort horizontal plane and maxillary plane widens 5.17° (P = 0.022) before 6 months. Angles SNA, SNB, and ANB showed decreases, averaging 12.23° (P < 0.001), 5.19° (P = 0.004), and 6.72° (P = 0.001), respectively. The linear measurements showed synchronicity and continuing deformity into adulthood. Between 6 months to 2 years of age, the distance from sella to nasion (S-N), anterior nasal spine (S-ANS), and posterior nasal spine (S-PNS) decreased 8% (P = 0.006), 16% (P < 0.001), and 19% (P = 0.002), respectively, and remained shortened into adulthood. The angulation changes occur earlier in development than linear distance reduction in Apert syndrome patients compared with controls. Angular adjustments were not sufficient to maintain normal cranial base length. Facial deformity of Apert syndrome temporally begins with the midface, and affects orbit and mandible later in life.
复杂的颅面畸形与多种细胞内调节机制相互作用，导致Apert综合征出现不明确的生长模式。本研究旨在探讨颅面解剖关系发育的时间顺序和发病机制，并验证Apert综合征中颅骨与面部结构之间的位置相关性。纳入了54例计算机断层扫描（Apert综合征患者18例，对照组36例），并分为3个年龄亚组。通过Materialize软件分析颅面三维头影测量。蝶鞍-鼻根平面与上颌平面之间的夹角在6个月龄前增大7.74°（P = 0.003）；此后，在6个月至2岁时该夹角增大10.36°（P < 0.001），并在整个儿童期保持增大8.9°（P = 0.046）。法兰克福水平面与上颌平面之间的夹角在6个月前增大5.17°（P = 0.022）。SNA、SNB和ANB角均减小，平均分别为12.23°（P < 0.001）、5.19°（P = 0.004）和6.72°（P = 0.001）。线性测量显示出同步性且畸形持续至成年期。在6个月至2岁之间，蝶鞍至鼻根（S-N）、前鼻棘（S-ANS）和后鼻棘（S-PNS）的距离分别减少8%（P = 0.006）、16%（P < 0.001）和19%（P = 0.002），并在成年期仍保持缩短。与对照组相比，Apert综合征患者的角度变化在发育过程中比线性距离减小更早出现。角度调整不足以维持正常的颅底长度。Apert综合征的面部畸形在时间上始于中面部，随后在生命后期影响眼眶和下颌骨。
