Tønne Elin, Due-Tønnessen Bernt J, Wiig Ulrikke, Stadheim Barbro F, Meling Torstein R, Helseth Eirik, Heimdal Ketil R
1Faculty of Medicine, University of Oslo.
Departments of2Medical Genetics and.
J Neurosurg Pediatr. 2020 Apr 3;26(1):68-75. doi: 10.3171/2020.1.PEDS2051. Print 2020 Jul 1.
The authors present population-based epidemiological data for craniosynostosis regarding incidence, age at diagnosis, sex differences, and frequency of syndromic and familial cases.
The prospective registry of the Norwegian National Unit for Craniofacial Surgery was used to retrieve data on all individuals with craniosynostosis treated between 2003 and 2017. The cohort was divided into three 5-year groups based on year of birth: 2003-2007, 2008-2012, and 2013-2017.
The authors identified 386 individuals with craniosynostosis. Of these, 328 (85%) consented to be registered with further information. The incidence increased significantly during the study period and was 5.5 per 10,000 live births (1/1800) in the last 5-year period. The increase was seen almost exclusively in the nonsyndromic group. Syndromic craniosynostosis accounted for 27% of the cases, and the incidence remained stable throughout the three 5-year periods. Both syndromic and nonsyndromic craniosynostosis were highly suture specific. There was a male preponderance (male/female ratio 2:1), and males accounted for 75% of the individuals with midline synostosis. Overall, 9.5% were index individuals in families with more than one affected member; of these, 73% were nonsyndromic cases.
The incidence of craniosynostosis increased during the study period, and the observed incidence is among the highest reported. The authors attribute this to increasing awareness among healthcare professionals. The number of syndromic cases was high, likely due to a broader definition compared to the majority of earlier reports. The study revealed a high number of familial cases in both syndromic and nonsyndromic craniosynostosis, thus highlighting the importance of genetics as an underlying cause of craniosynostosis.
作者呈现了基于人群的颅缝早闭流行病学数据，内容涉及发病率、诊断年龄、性别差异以及综合征型和家族性病例的频率。
利用挪威国家颅面外科单位的前瞻性登记系统，检索2003年至2017年间接受治疗的所有颅缝早闭患者的数据。根据出生年份，该队列被分为三个5年组：2003 - 2007年、2008 - 2012年和2013 - 2017年。
作者共识别出386例颅缝早闭患者。其中，328例（85%）同意登记更多信息。在研究期间，发病率显著上升，在最后一个5年期间为每10000例活产中有5.5例（1/1800）。这种上升几乎完全出现在非综合征型组。综合征型颅缝早闭占病例的27%，在三个5年期间发病率保持稳定。综合征型和非综合征型颅缝早闭都具有高度的缝线特异性。男性占优势（男/女比例为2:1），男性占中线缝早闭患者的75%。总体而言，9.5%是有不止一名受影响成员的家庭中的索引病例；其中，73%是非综合征型病例。
在研究期间，颅缝早闭的发病率上升，观察到的发病率是报告中最高的之一。作者将此归因于医疗保健专业人员意识的提高。综合征型病例数量较多，可能是因为与大多数早期报告相比定义更宽泛。该研究揭示了综合征型和非综合征型颅缝早闭中都有大量家族性病例，从而突出了遗传学作为颅缝早闭潜在病因的重要性。
