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Craniosynostosis: current conceptions and misconceptions

机译:颅骨融合症:目前的观念和误解

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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.
机译:颅骨在称为缝合线的区域内铰接,必须缝合直到颅骨完全生长。颅骨融合症是由于过早关闭一种或多种颅穹缝合线,产生面部畸形,更重要的是颅骨生长受限而严重影响脑部生长的结果。通常,颅突神经症可以表达为孤立事件或症状表型的一部分。多种信号传导机制在发育阶段相互作用,以确保适当及时的缝合线融合。临床结局通常是颅突融合症亚型,受影响的缝合线数量和过早缝合线融合时间的产物。目前的工作旨在审查涉及颅骨突触形成的不同方面,提供这些畸形的细胞,分子和遗传背景的近距离观察。

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