Abstract：
BACKGROUND: Craniosynostosis is a prevalent craniofacial malformation in Finland; however, comprehensive population-based epidemiological data are limited. This study aimed to estimate the total and birth prevalence of craniosynostosis in Finland from 1987 to 2010 and examine temporal trends.
METHODS: We collected the data from nationwide registers maintained by the Finnish Institute for Health and Welfare and Statistics Finland, as well as treating hospitals, encompassing live births, stillbirths, terminations for fetal anomalies, and infant deaths with suspected or diagnosed craniosynostosis or skull deformation. A craniofacial surgeon and a clinical geneticist reviewed 1878 medical records for diagnostic confirmation.
RESULTS: Out of 877 craniosynostosis cases, 83% were single-suture synostoses (all live births), 10% craniosynostosis syndromes, and 7% multisutural non-syndromic synostoses. Live birth prevalence from 1987 to 2010 was 6.0/10,000 live births, ranging from 5.0/10,000 in 1987 to 7.5/10,000 in 2010. Total prevalence, including live births, stillbirths, and terminations, varied from 5.0/10,000 in 1987 to 8.0/10,000 in 2010. Sagittal synostosis was the most common synostosis, with a prevalence of 3.9/10,000 live births, followed by metopic (0.6/10,000), unicoronal (0.4/10,000), and unilambdoid (0.1/10,000) synostoses.
CONCLUSIONS: The total combined prevalence of all craniosynostosis types significantly increased driven by a nonsignificant rise across all subgroups and a significant increase in the syndrome group. In live births increase was significant only within the syndrome subgroup, primarily due to an increase in Muenke syndrome patients. The rising prevalence of syndromes necessitates further investigation. Contrasting with trends in Europe, Australia, and the USA, Finland showed no significant increase in metopic craniosynostosis.
METHODS: We collected the data from nationwide registers maintained by the Finnish Institute for Health and Welfare and Statistics Finland, as well as treating hospitals, encompassing live births, stillbirths, terminations for fetal anomalies, and infant deaths with suspected or diagnosed craniosynostosis or skull deformation. A craniofacial surgeon and a clinical geneticist reviewed 1878 medical records for diagnostic confirmation.
RESULTS: Out of 877 craniosynostosis cases, 83% were single-suture synostoses (all live births), 10% craniosynostosis syndromes, and 7% multisutural non-syndromic synostoses. Live birth prevalence from 1987 to 2010 was 6.0/10,000 live births, ranging from 5.0/10,000 in 1987 to 7.5/10,000 in 2010. Total prevalence, including live births, stillbirths, and terminations, varied from 5.0/10,000 in 1987 to 8.0/10,000 in 2010. Sagittal synostosis was the most common synostosis, with a prevalence of 3.9/10,000 live births, followed by metopic (0.6/10,000), unicoronal (0.4/10,000), and unilambdoid (0.1/10,000) synostoses.
CONCLUSIONS: The total combined prevalence of all craniosynostosis types significantly increased driven by a nonsignificant rise across all subgroups and a significant increase in the syndrome group. In live births increase was significant only within the syndrome subgroup, primarily due to an increase in Muenke syndrome patients. The rising prevalence of syndromes necessitates further investigation. Contrasting with trends in Europe, Australia, and the USA, Finland showed no significant increase in metopic craniosynostosis.
摘要：
背景：颅骨融合是芬兰普遍存在的颅面畸形；然而，全面的基于人群的流行病学数据是有限的。这项研究旨在估计1987年至2010年芬兰颅骨融合的总患病率和出生患病率，并检查时间趋势。
方法：我们从芬兰卫生与福利和统计研究所维护的全国登记册中收集数据，以及治疗医院，包括活产，死产,终止胎儿畸形，以及怀疑或诊断为颅骨融合症或颅骨变形的婴儿死亡。颅面外科医生和临床遗传学家审查了1878年的医疗记录以进行诊断确认。
结果：在877例颅骨融合中，83％是单缝骨结膜（所有活产），10%的颅骨融合综合征,和7%的多缝线非综合征性滑膜。1987年至2010年的活产患病率为6.0/10000活产，从1987年的5.0/10,000到2010年的7.5/10,000。总患病率，包括活产,死产,和终止，从1987年的5.0/10,000变化到2010年的8.0/10,000。矢状融合是最常见的融合，活产的患病率为3.9/10,其次是metopic(0.6/10000)，单声道（0.4/10,000），和unilambdoid(0.1/10,000)节。
结论：由于所有亚组的无显著性升高和综合征组的显著升高，所有颅骨融合类型的总合并患病率显著升高。在活产中，仅在综合征亚组中增加显着，主要是由于Muenke综合征患者的增加。综合征患病率的上升需要进一步调查。与欧洲的趋势相反，澳大利亚,和美国,芬兰的异位颅骨融合没有显着增加。
方法：我们从芬兰卫生与福利和统计研究所维护的全国登记册中收集数据，以及治疗医院，包括活产，死产,终止胎儿畸形，以及怀疑或诊断为颅骨融合症或颅骨变形的婴儿死亡。颅面外科医生和临床遗传学家审查了1878年的医疗记录以进行诊断确认。
结果：在877例颅骨融合中，83％是单缝骨结膜（所有活产），10%的颅骨融合综合征,和7%的多缝线非综合征性滑膜。1987年至2010年的活产患病率为6.0/10000活产，从1987年的5.0/10,000到2010年的7.5/10,000。总患病率，包括活产,死产,和终止，从1987年的5.0/10,000变化到2010年的8.0/10,000。矢状融合是最常见的融合，活产的患病率为3.9/10,其次是metopic(0.6/10000)，单声道（0.4/10,000），和unilambdoid(0.1/10,000)节。
结论：由于所有亚组的无显著性升高和综合征组的显著升高，所有颅骨融合类型的总合并患病率显著升高。在活产中，仅在综合征亚组中增加显着，主要是由于Muenke综合征患者的增加。综合征患病率的上升需要进一步调查。与欧洲的趋势相反，澳大利亚,和美国,芬兰的异位颅骨融合没有显着增加。
