New insights into craniosynostosis.
New insights into craniosynostosis.
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DOI：
10.1053/spen.2002.32504
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发表时间：
2002-12
影响因子：
2.7
通讯作者：
L. Flores‐Sarnat
中科院分区：
文献类型：
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作者：
L. Flores‐Sarnat
颅缝早闭是一种先天性发育障碍，涉及颅缝过早融合，通常伴有多种神经系统表现。在分子遗传学的新时代，这组疾病的观点发生了巨大变化。在过去的十年中，出现了大量关于颅缝早闭新概念的文献。与颅缝早闭相关的综合征有100多种，其中大约有12种已经确定了分子缺陷。儿科神经科医生比遗传学家、神经外科医生和颅面外科医生更不了解这些变化。关于颅缝早闭的一般概念在这里提出了更新的临床和遗传方面的明确定义的综合征，如Apert，Crouzon，Pfeiffer，Saethre-Chotzen。它们与成纤维细胞生长因子受体（FGFR）1、2和3以及与致病基因如TWIST的关系的证据已经被记录。新的和其他不太常见的综合征也进行了讨论。位置性斜头畸形和骨性结合性斜头畸形之间的差异是重要的，也是非综合征性颅缝早闭的原因。患者的预后和神经学结果，包括“良性”形式的颅缝早闭，是其他重要方面。在了解颅缝早闭的发病机制、诊断和治疗方面取得了重大进展。局部硬脑膜和细胞凋亡的作用;产前超声、三维和螺旋CT等成像方式提高了诊断的准确性，以及涉及有效和微创方法的外科治疗新方法，都是这些进展的证据。
Craniosynostosis is a congenital developmental disorder involving premature fusion of cranial sutures, often associated with multiple neurological manifestations. The perspective of this group of disorders has changed dramatically in the new era of molecular genetics. In the last decade a large literature with new concepts in craniosynostosis has appeared. More than 100 syndromes associated with craniosynostosis have been described, and in about a dozen, the molecular defect has been identified. Pediatric neurologists are less aware than geneticists, neurosurgeons, and craniofacial surgeons of these changes. General concepts about craniosynostosis are here presented with updates of clinical and genetic aspects of well-defined syndromes such as Apert, Crouzon, Pfeiffer, Saethre-Chotzen. Evidence of their relationship with fibroblast growth factor receptors (FGFRs) 1, 2, and 3, and with causative genes such as TWIST has been documented. New and other less common syndromes also are discussed. The differences between positional and synostotic plagiocephaly are important, as well as the cause of nonsyndromic craniosynostosis. The prognosis and neurological outcome of patients, including "benign" forms of craniosynostosis, are other important aspects. Major advances have occurred in understanding pathogenesis, diagnosis, and treatment of craniosynostosis. The role of local dura mater and apoptosis; modalities of imaging such as prenatal ultrasound and three-dimensional and spiral CT have improved the accuracy in diagnosis, and the new approaches in surgical treatment involving efficient and less invasive methods, are evidence of these advances.