Background/Aim: Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary disease that causes tumors and many developmental disorders, e.g., cranial dysplasia. The purpose of this retrospective study was to analyse the pneumatisation of the sphenoid bone in NF1. Patients and Methods: The anonymised lateral cephalograms of 166 NF1 patients and 166 age- and sex-matched controls were examined for anterior-posterior sphenoid pneumatisation. The patient group analysis considered whether the patients had been affected by a facial plexiform neurofibroma (FPNF). Results: Sphenoid pneumatisation was significantly lower in NF1 patients than in controls [odds ratio (OR)=0.184; 95%CI=0.11-0.32; p<0.001]. A FPNF statistically significantly reduced sinus formation in patients (OR=0.38; p=0.002). Conclusion: The condition ‘NF1’ has an effect on sphenoid pneumatisation. The findings are relevant for planning surgical procedures in this region and confirm current concepts to evaluate NF1 as a histogenesis control gene. The examination technique and basis of calculation presented here are easy-to-use and low-irradiation exposure instruments for screening for differences in sphenoid bone pneumatisation in defined populations.

中文翻译：

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1 型神经纤维瘤病患者侧脑片的蝶骨气化

背景/目的：1型神经纤维瘤病（NF1）是一种常染色体显性遗传病，可导致肿瘤和许多发育障碍，例如颅骨发育不良。这项回顾性研究的目的是分析 NF1 中蝶骨的气化。患者和方法：检查了 166 名 NF1 患者和 166 名年龄和性别匹配的对照者的匿名头颅侧位照片，以检查蝶骨前后气化。患者组分析考虑了患者是否受到面部丛状神经纤维瘤 (FPNF) 的影响。结果：NF1 患者的蝶骨气化显着低于对照组 [优势比 (OR) = 0.184；95%CI=0.11-0.32；p<0.001]。FPNF 在统计学上显着减少了患者的鼻窦形成（OR=0.38；p=0.002）。结论：条件“NF1”对蝶骨气化有影响。这些发现与规划该地区的外科手术有关，并证实了当前将 NF1 评估为组织发生控制基因的概念。这里介绍的检查技术和计算基础是易于使用和低辐射暴露的仪器，用于筛查特定人群中蝶骨气化的差异。