Craniosynostosis

被引：351

作者：

Johnson, David ^{[1
]}

Wilkie, Andrew O. M. ^{[2
]}

机构：

[1] Univ Oxford, John Radcliffe Hosp, Weatherall Inst Mol Med, Oxford Craniofacial Unit,Oxford Radcliffe Hosp NH, Oxford OX3 9DS, England

[2] Univ Oxford, Weatherall Inst Mol Med, Oxford OX3 9DS, England

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2011年 / 19卷 / 04期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

craniosynostosis; FGFR; TWIST; SAETHRE-CHOTZEN-SYNDROME; CROUZON-SYNDROME; FGFR2; MUTATIONS; MOUSE MODEL; CRANIOFRONTONASAL SYNDROME; SOMATIC MOSAICISM; APERT-SYNDROME; GENE; TWIST; DISORDERS;

D O I：

10.1038/ejhg.2010.235

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：369 / 376

页数：8

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