顱縫過早閉合症精準檢測套組
顱縫過早閉合症（Craniosynostosis）是指一個或多個顱縫線的過早融合，常會導致頭部形狀異常。
簡介
- 顱縫過早閉合症（Craniosynostosis）是指一個或多個顱縫線的過早融合，常會導致頭部形狀異常。它是一種發育性顱面畸形，由原發性的骨化缺陷（原發性顱縫線封閉過早），或更常見的由大腦發育缺失（繼發性顱縫線封閉過早）所引起。當只有一個縫合線過早融合時，症狀是簡單的，而當過早融合發生於多個縫合線時，症狀是複雜/複合的。複雜的顱縫過早閉合症通常與其他身體畸形有關。主要的罹病風險是顱內壓升高和隨後的腦損傷。如果不加以治療，顱縫過早閉合症會引起嚴重的併發症，如發育遲緩、面部異常、感覺、呼吸和神經系統功能障礙、眼睛異常和社會心理障礙。在大約85%的病例中，這種疾病屬於非症候群性，是單純的且不伴隨其他異常。而症狀性顱縫過早閉合症通常伴隨多器官併發症。
- Igenomix 顱縫過早閉合症精準檢測套組可對病症提供直接且準確的診斷，最終可達成更好的疾病管理，改善預後。本檢測利用次世代定序（NGS）對此疾病的相關基因進行全面分析，以充分了解相關基因的受影響程度。
Delahaye S, Bernard JP, Rénier D, Ville Y. Prenatal ultrasound diagnosis of fetal craniosynostosis. Ultrasound Obstet Gynecol. 2003 Apr;21(4):347-53. doi: 10.1002/uog.91. PMID: 12704742
Kajdic, N., Spazzapan, P., & Velnar, T. (2018). Craniosynostosis – Recognition, clinical characteristics, and treatment. Bosnian journal of basic medical sciences, 18(2), 110–116. https://doi.org/10.17305/bjbms.2017.2083
Wilkie, A., Johnson, D., & Wall, S. A. (2017). Clinical genetics of craniosynostosis. Current opinion in pediatrics, 29(6), 622–628. https://doi.org/10.1097/MOP.0000000000000542
Kutkowska-Kaźmierczak, A., Gos, M., & Obersztyn, E. (2018). Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling. Journal of applied genetics, 59(2), 133–147. https://doi.org/10.1007/s13353-017-0423-4
Wang, J. C., Nagy, L., & Demke, J. C. (2016). Syndromic Craniosynostosis. Facial plastic surgery clinics of North America, 24(4), 531–543. https://doi.org/10.1016/j.fsc.2016.06.008
Azoulay-Avinoam, S., Bruun, R., MacLaine, J., Allareddy, V., Resnick, C. M., & Padwa, B. L. (2020). An Overview of Craniosynostosis Craniofacial Syndromes for Combined Orthodontic and Surgical Management. Oral and maxillofacial surgery clinics of North America, 32(2), 233–247. https://doi.org/10.1016/j.coms.2020.01.004
Jabs, E. (2008). Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates. Clinical Genetics, 53(2), 79-86. doi: 10.1111/j.1399-0004.1998.tb02648.x
Kimonis, V., Gold, J., Hoffman, T., Panchal, J., & Boyadjiev, S. (2007). Genetics of Craniosynostosis. Seminars In Pediatric Neurology, 14(3), 150-161. doi: 10.1016/j.spen.2007.08.008
Lattanzi, W., Barba, M., Di Pietro, L., & Boyadjiev, S. A. (2017). Genetic advances in craniosynostosis. American journal of medical genetics. Part A, 173(5), 1406–1429. https://doi.org/10.1002/ajmg.a.38159
