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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Child
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Chromosome Aberrations
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Cranial Sutures
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Craniosynostoses / diagnosis*
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Craniosynostoses / genetics*
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Craniosynostoses / pathology
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Ephrin-B1 / genetics
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Female
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Genetic Counseling
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Humans
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Male
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Mutation / genetics
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Nuclear Proteins / genetics
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Prenatal Diagnosis
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Receptor, Fibroblast Growth Factor, Type 1 / genetics
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Receptor, Fibroblast Growth Factor, Type 2 / genetics
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Receptor, Fibroblast Growth Factor, Type 3 / genetics
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Risk Assessment
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Tomography Scanners, X-Ray Computed
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Twist-Related Protein 1 / genetics
Substances
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EFNB1 protein, human
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Ephrin-B1
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Nuclear Proteins
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TWIST1 protein, human
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Twist-Related Protein 1
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FGFR1 protein, human
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FGFR2 protein, human
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FGFR3 protein, human
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Receptor, Fibroblast Growth Factor, Type 1
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Receptor, Fibroblast Growth Factor, Type 2
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Receptor, Fibroblast Growth Factor, Type 3