颅缝早闭。
Craniosynostosis.
机构信息
Oxford Craniofacial Unit, Oxford Radcliffe Hospitals NHS Trust, John Radcliffe Hospital, Oxford, UK.
出版信息
Eur J Hum Genet. 2011 Apr;19(4):369-76. doi: 10.1038/ejhg.2010.235. Epub 2011 Jan 19.
Abstract
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.
摘要
颅缝早闭是指颅骨缝过早融合，在分类和治疗方面存在诸多挑战。至少有 20%的病例是由特定的单基因突变或染色体异常引起的。本文概述了对出现异常头型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。
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本文引用的文献
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Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.颅缝早闭中单基因病和染色体病的患病率及并发症。
Pediatrics. 2010 Aug;126(2):e391-400. doi: 10.1542/peds.2009-3491. Epub 2010 Jul 19.
2
Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes.母亲携带 FGFR2 基因突变的胚系和体线嵌合体：对“父龄效应”综合征中遗传检测的影响。
Am J Med Genet A. 2010 Aug;152A(8):2067-73. doi: 10.1002/ajmg.a.33513.
3
Fetal constraint as a potential risk factor for craniosynostosis.胎儿受限是颅缝早闭的潜在危险因素。
Am J Med Genet A. 2010 Feb;152A(2):394-400. doi: 10.1002/ajmg.a.33246.
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Craniosynostosis: a radiological and surgical perspective.颅缝早闭：放射学与外科视角
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Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.FGFR3和HRAS中的激活突变揭示了先天性疾病和睾丸肿瘤的共同遗传起源。
Nat Genet. 2009 Nov;41(11):1247-52. doi: 10.1038/ng.470. Epub 2009 Oct 25.
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Genotypic and phenotypic analyses of Korean patients with syndromic craniosynostosis.韩国综合征性颅缝早闭患者的基因型和表型分析。
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