颅缝早闭诊断评估的最新进展：聚焦儿科系统评估与遗传学研究
Update of Diagnostic Evaluation of Craniosynostosis with a Focus on Pediatric Systematic Evaluation and Genetic Studies.
作者信息
Hwang Su-Kyeong, Park Ki-Su, Park Seong-Hyun, Hwang Sung Kyoo
机构信息
Department of Pediatrics, Kyungpook National University Hospital, Daegu, Korea.
Department of Neurosurgery, Kyungpook National University Hospital, Daegu, Korea.
出版信息
J Korean Neurosurg Soc. 2016 May;59(3):214-8. doi: 10.3340/jkns.2016.59.3.214. Epub 2016 May 10.
Most craniosynostoses are sporadic, but may have an underlying genetic basis. Secondary and syndromic craniosynostosis accompanies various systemic diseases or associated anomalies. Early detection of an associated disease may facilitate the interdisciplinary management of patients and improve outcomes. For that reason, systematic evaluation of craniosynostosis is mandatory. The authors reviewed systematic evaluation of craniosynostosis with an emphasis on genetic analysis.
大多数颅缝早闭是散发性的，但可能有潜在的遗传基础。继发性和综合征性颅缝早闭伴有各种全身性疾病或相关畸形。早期发现相关疾病可能有助于患者的多学科管理并改善治疗结果。因此，对颅缝早闭进行系统评估是必不可少的。作者回顾了颅缝早闭的系统评估，重点是基因分析。
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