Syndromic Craniosynostosis
Syndromic Craniosynostosis
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DOI：
10.1016/j.cps.2018.11.009
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发表时间：
2019-04-01
影响因子：
2.3
通讯作者：
Steinbacher, Derek M.
中科院分区：
文献类型：
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作者：
Sawh-Martinez, Rajendra;Steinbacher, Derek M.
综合征型颅缝早闭患者的管理策略需要多学科的亚专业团队为复杂的重建方法提供最佳护理。最常见的颅缝早闭综合征包括Apert（FGFR 2）、Crouzon（FGFR 2）、Muenke（FGFR 3）、Pfeiffer（FGFR 1和FGFR 2）和Saethre-Chotzen（TWIST）。双冠型颅缝早闭（短颅畸形）最常见于颅缝早闭综合征。疾病的表现从轻度的缝受累到严重的全骨性早闭，伴有一系列颅外畸形表现。了解多方面的综合征的介绍，同时欣赏全套可变介绍是提供必要的个性化护理的核心。颅穹窿重建的目的是解除颅发育受限和颅内压增高，恢复正常形态。
Management strategies for syndromic craniosynostosis patients require multidisciplinary subspecialty teams to provide optimal care for complex reconstructive approaches. The most common craniosynostosis syndromes include Apert (FGFR2), Crouzon (FGFR2), Muenke (FGFR3), Pfeiffer (FGFR1 and FGFR2), and Saethre-Chotzen (TWIST). Bicoronal craniosynostosis (turribrachycephaly) is most commonly associated with syndromic craniosynostosis. Disease presentation varies from mild sutural involvement to severe pansynostoses, with a spectrum of extracraniofacial dysmorphic manifestations. Understanding the multifaceted syndromic presentations while appreciating the panoply of variable presentations is central to delivering necessary individualized care. Cranial vault remodeling aims to relieve restriction of cranial development and elevated intracranial pressure and restore normal morphology.