...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Plastic and reconstructive surgery >Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.
【24h】

Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.

机译：TWIST1确认的Saethre-Chotzen综合征的颅内高压再手术：15年回顾。

获取原文
获取原文并翻译 | 示例
   

获取外文期刊封面封底 >>

       
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

BACKGROUND: Saethre-Chotzen syndrome is a syndromic craniosynostosis defined by a genetic mutation affecting the TWIST1 gene on chromosome 7p21. It is typically associated with unicoronal or bicoronal synostosis, eyelid ptosis, dysmorphic external ears, and other variable facial and limb abnormalities. Surgical management of the craniosynostosis addresses the calvarial deformity and may relieve or reduce the risk of intracranial hypertension. The aim of this study was to assess surgical intervention, with particular consideration of the reoperation rate for intracranial hypertension, in Saethre-Chotzen syndrome patients. METHODS: A retrospective case note analysis was performed on all patients with a confirmed TWIST1 gene abnormality who attended the Oxford Craniofacial Unit over a 15-year period. Each patient's mutation and clinical features were recorded. Surgical intervention and sequelae were examined in greater detail. RESULTS: Thirty-four patients with genetically confirmed Saethre-Chotzen syndrome were identified. All had craniosynostosis (bicoronal, 76 percent; unicoronal, 18 percent; bicoronal and sagittal, 6 percent), and the majority had eyelid ptosis, low frontal hairline, and external ear anomalies. Thirty-one patients had received surgical intervention. Nine of 26 patients (35 percent) with at least 12 months of follow-up after primary intervention and eight of 19 patients (42 percent) with at least 5 years of follow-up developed intracranial hypertension necessitating secondary calvarial surgery. CONCLUSIONS: Despite standard surgical intervention, patients with Saethre-Chotzen syndrome have a high rate (35 to 42 percent) of recurrent intracranial hypertension necessitating further surgical expansion. All patients with either bicoronal synostosis or unicoronal synostosis with syndromic features should be screened for TWIST1 mutations, as this confers a greater risk than nonsyndromic synostosis of the same sutures. Regular follow-up throughout the childhood years is essential.
机译：背景：Saethre-Chotzen综合征是一种综合征性颅脑前突病，其特征是通过基因突变影响7p21染色体上的TWIST1基因。它通常与单冠状或双冠状突触，眼睑下垂，畸形的外耳以及其他各种面部和肢体异常有关。颅骨融合症的外科治疗可解决颅骨畸形，并可减轻或降低颅内高压的风险。这项研究的目的是评估Saethre-Chotzen综合征患者的外科手术干预，特别是考虑颅内高压的再手术率。方法：对所有确诊为TWIST1基因异常的患者进行了回顾性病例分析，这些患者在牛津颅面科就诊了15年。记录每位患者的突变和临床特征。手术干预和后遗症进行了更详细的检查。结果：确定了34例经基因证实的Saethre-Chotzen综合征患者。所有患者均患有颅脑前突（双侧性鼻窦炎，占76％;单侧冠状动脉，占18％;双侧冠状和矢状，占6％），并且大多数患有眼睑下垂，额叶发际低和外耳异常。 31例患者接受了手术干预。 26例患者中有9例（35％）进行了至少12个月的随访，19例患者中的8例（42％）进行了至少5年的随访，发展为颅内高压，需要进行二次颅内手术。结论：尽管进行了标准的外科手术干预，但Saethre-Chotzen综合征患者的颅内复发性高血压的发生率较高（35％至42％），因此有必要进一步扩大手术范围。应当筛查所有具有综合征特征的双冠状动脉突触或单冠状动脉突触患者，因为它们都比相同缝合线的非综合征性突触具有更大的风险。在整个童年时期定期进行随访至关重要。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号