颅缝闭锁:目前的观念和误解

C. S. Fonteles, R. Finnell, T. George, R. Harshbarger
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引用次数: 7

摘要

颅骨在称为缝合线的区域内连接,在颅骨生长完成之前,缝合线必须保持通畅。颅缝闭闭是由于一条或多条颅穹窿缝合线过早闭合而导致的一种疾病,会导致面部畸形,更重要的是,颅骨生长受限,严重影响大脑发育。通常,颅缝闭锁可以作为一个孤立事件表达,也可以作为综合征表型的一部分。多种信号机制在发育阶段相互作用,以确保正确和及时的缝合融合。临床结果通常是颅缝闭合亚型、受影响缝合线数量和过早缝合线融合时间的产物。目前的工作旨在回顾不同方面涉及建立颅缝闭锁,提供这些畸形的细胞,分子和遗传背景的密切关注。
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Craniosynostosis: current conceptions and misconceptions
Abstract Cranial bones articulate in areas called sutures that must remain patent until skull growth is complete. Craniosynostosis is the condition that results from premature closure of one or more of the cranial vault sutures, generating facial deformities and more importantly, skull growth restrictions with the ability to severely affect brain growth. Typically, craniosynostosis can be expressed as an isolated event, or as part of syndromic phenotypes. Multiple signaling mechanisms interact during developmental stages to ensure proper and timely suture fusion. Clinical outcome is often a product of craniosynostosis subtypes, number of affected sutures and timing of premature suture fusion. The present work aimed to review the different aspects involved in the establishment of craniosynostosis, providing a close view of the cellular, molecular and genetic background of these malformations.
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AIMS Genetics
AIMS Genetics GENETICS & HEREDITY-
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