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Craniofacial Syndromes

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Abstract

A craniofacial condition involves both the cranium, with its contents, and the face. Craniosynostosis is the premature fusion of cranial sutures. The overall prevalence of craniosynostosis has been estimated at between 1 in 2100 and 1 in 2500 live births. It is most often an isolated finding, affecting the sagittal or coronal sutures, but can also occur as part of a syndrome, with additional findings such as limb abnormalities and developmental delay. It is termed ‘simple’ synostosis if a single suture is involved. All multiple suture synostoses (‘complex’ cases) are syndromic. More than a hundred syndromes associated with craniosynostosis have been described. The commoner ones are described in this chapter.

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Further Reading

  • Elden LM, Zur KB, editors. Congenital malformations of the head and neck. New York: Springer; 2014.

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  • Forrest CR, Hopper RA. Craniofacial syndromes and surgery. Plast Reconstr Surg. 2013;131(1):86e–109e.

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  • Hennekam RCM, Allanson JE, Krantz ID. Gorlin’s syndromes of the head and neck. 5th ed. Oxford: Oxford University Press; 2010.

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Gruber, E.A., Dover, M.S. (2019). Craniofacial Syndromes. In: Carachi, R., Doss, S. (eds) Clinical Embryology. Springer, Cham. https://doi.org/10.1007/978-3-319-26158-4_16

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  • DOI: https://doi.org/10.1007/978-3-319-26158-4_16

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-26156-0

  • Online ISBN: 978-3-319-26158-4

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