Premature Closure of the Spheno-occipital Synchondrosis in Pfeiffer Syndrome: A Link to Midface Hypoplasia
Premature Closure of the Spheno-occipital Synchondrosis in Pfeiffer Syndrome: A Link to Midface Hypoplasia
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DOI：
10.1097/scs.0000000000000386
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发表时间：
2014-01-01
影响因子：
0.9
通讯作者：
Taylor, Jesse Adam
中科院分区：
文献类型：
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作者：
Paliga, James Thomas;Goldstein, Jesse A.;Taylor, Jesse Adam
蝶枕骨联合软骨症 (SOS) 是面中部和颅底生长的重要组成部分。在动物模型和患有阿佩尔综合征和穆恩克综合征的综合征性颅缝早闭亚群中，过早闭合与中面部发育不全有关。为了将 Pfeiffer 综合征患者的过早 SOS 闭合与中面部发育不全联系起来，我们对 1982 年至 2012 年间在大型颅面中心接受治疗的诊断为 Pfeiffer 综合征的患者进行了一项回顾性病例对照研究。至少需要 1 次计算机断层扫描 (CT) 扫描来评估 SOS 通畅性。还评估了年龄/性别匹配的对照 CT 扫描的 SOS 通畅情况。三位具有高评价者间可靠性 (kappa = 0.88) 的独立评审员将 SOS 通畅性分级为开放、部分封闭或完全封闭。 Wilcoxon 秩和检验将 Pfeiffer 患者与对照受试者进行比较。 16 名 Pfeiffer 综合征患者总共进行了 63 次 CT 扫描，所有患者均患有中面部发育不全，而 63 例年龄/性别匹配的对照扫描，其中没有一人患有中面部发育不全，符合纳入标准。 Pfeiffer 综合征患者最早部分 SOS 闭合发生在 5 天，而对照组患者则为 7.07 岁。 Pfeiffer 队列中完全融合的最早年龄为 2.76 岁，对照组为 12.74 岁。与对照受试者（10.92 +/- 3.53 岁）相比，Pfeiffer 综合征患者部分闭合时的平均年龄明显更年轻（4.99 +/- 3.33 岁；n = 31 次扫描）（P = 0.0005），而完全闭合时的平均年龄（11.90 +/- 7.04 岁）与对照受试者（16.07 +/- 3.39 岁）没有显着差异。尽管无法得出明确的因果关系，但 Pfeiffer 综合征中面中部发育不全与过早 SOS 闭合之间存在很强的相关性。
The spheno-occipital synchondrosis (SOS) is a critical component of midfacial and cranial base growth. Premature closure has been associated with midface hypoplasia in animal models and syndromic craniosynostosis subpopulations with Apert and Muenke syndromes. To link premature SOS closure and midface hypoplasia in patients with Pfeiffer syndrome, a retrospective case-control study was performed in patients treated at a large craniofacial center between 1982 and 2012 diagnosed with Pfeiffer syndrome. At least 1 computed tomography (CT) scan was required to assess SOS patency. Age-/sex-matched control CT scans were also assessed for SOS patency. Three independent reviewers with high interrater reliability (kappa = 0.88) graded SOS patency as open, partially closed, or completely closed. Wilcoxon rank sum test compared the Pfeiffer patients with control subjects.A total of 63 CT scans in 16 patients with Pfeiffer syndrome, all with midface hypoplasia, and 63 age-/sex-matched control scans, none of whom had midface hypoplasia, met inclusion criteria. Earliest partial SOS closure in patients with Pfeiffer syndrome was seen at 5 days compared with control subjects at 7.07 years. Earliest age at complete fusion was 2.76 years in the Pfeiffer cohort and 12.74 years in control subjects. Average age at partial closure was significantly younger (4.99 +/- 3.33 years; n = 31 scans) in patients with Pfeiffer syndrome compared with control subjects (10.92 +/- 3.53 years) (P = 0.0005), whereas average age at complete closure (11.90 +/- 7.04 years) was not significantly different than that in control subjects (16.07 +/- 3.39 years). Although definitive causality cannot be concluded, a strong correlation exists between midface hypoplasia and premature SOS closure in Pfeiffer syndrome.