Craniosynostosis.
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.
Oxford Craniofacial Unit, Oxford Radcliffe Hospitals NHS Trust, John Radcliffe Hospital, Oxford, UK.
David
D
Johnson
Andrew O M
AO
Wilkie
D002648:Child; D002869:Chromosome Aberrations; D003393:Cranial Sutures; D003398:Craniosynostoses / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D036387:Ephrin-B1 / Q000235:genetics; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D011296:Prenatal Diagnosis; D051496:Receptor, Fibroblast Growth Factor, Type 1 / Q000235:genetics; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics; D018570:Risk Assessment; D015898:Tomography Scanners, X-Ray Computed; D051879:Twist-Related Protein 1 / Q000235:genetics
C484288:EFNB1 protein, human; D036387:Ephrin-B1; D009687:Nuclear Proteins; C103173:TWIST1 protein, human; D051879:Twist-Related Protein 1; C496348:FGFR1 protein, human; C496353:FGFR2 protein, human; C496365:FGFR3 protein, human; D051496:Receptor, Fibroblast Growth Factor, Type 1; D051497:Receptor, Fibroblast Growth Factor, Type 2; D051498:Receptor, Fibroblast Growth Factor, Type 3
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