Craniosynostosis
Craniosynostosis
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DOI：
10.1038/ejhg.2010.235
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发表时间：
2011-04-01
影响因子：
5.2
通讯作者：
Wilkie, Andrew O. M.
中科院分区：
文献类型：
--
作者：
Johnson, David;Wilkie, Andrew O. M.
颅缝早闭被定义为颅骨缝的过早融合，在分类和治疗方面提出了许多挑战。至少20%的病例是由特定的单基因突变或染色体异常引起的。本文列出了对具有异常头部形状的儿童进行临床评估的方法，并说明了遗传分析如何有助于诊断和治疗。
Craniosynostosis, defined as the premature fusion of the cranial sutures, presents many challenges in classification and treatment. At least 20% of cases are caused by specific single gene mutations or chromosome abnormalities. This article maps out approaches to clinical assessment of a child presenting with an unusual head shape, and illustrates how genetic analysis can contribute to diagnosis and management.