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Genetic Features of Craniosynostosis

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The Sutures of the Skull

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Abstract

Craniosynostosis is a genetically heterogeneous disorder and accurate diagnosis may be difficult due to their overlapping features. Syndromic craniosynostosis including Muenke, Crouzon, Pfeiffer and Saethre-Chotzen syndromes accounts for 15% of patients with craniosynostosis, while 85% of craniosynostosis cases are non-syndromic. Today, it is well-known that the most common genetic mutations in craniosynostosis involve the genes for FGFR1, FGFR2, FGFR3, TWIST1, RUNX2, and MSX2. Using appropriate diagnostic tests, cases with syndromic craniosynostosis may be diagnosed without any difficulty, although identification of the genetic abnormality does not determine the management strategy of the patient with craniosynostosis. However, there is no doubt that an accurate prenatal diagnosis may be useful in parental genetic counseling in such cases.

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Authors and Affiliations

  1. Department of Neurosurgery, Istanbul Medipol University School of Medicine, Istanbul, Turkey

    Alican Tahta

  2. Department of Neurosurgery, Aydin Adnan Menderes University School of Medicine, Efeler, Aydin, Turkey

    Mehmet Turgut

  3. Department of Histology and Embryology, Aydin Adnan Menderes University Health Sciences Institute, Efeler, Aydin, Turkey

    Mehmet Turgut

  4. Department of Neurosurgery, State University of New York (SUNY). Upstate Medical University, Syracuse, NY, USA

    Walter A. Hall

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  1. Alican Tahta
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  2. Mehmet Turgut
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  3. Walter A. Hall
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Editors and Affiliations

  1. School of Medicine, Department of Neurosurgery, Aydın Adnan Menderes University, Efeler, Aydin, Turkey

    Mehmet Turgut

  2. Departments of Neurosurgery, Neurology, Surgery, and Structural and Cellular Biology, Tulane University School of Medicine, Center for Clinical Neurosciences, New Orleans, LA, USA

    R. Shane Tubbs

  3. Department of Radiology, Yüksek İhtisas University, Ankara, Turkey

    Ahmet T. Turgut

  4. Department of Neurosurgery, Tulane University, New Orleans, LA, USA

    Aaron S. Dumont

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Tahta, A., Turgut, M., Hall, W.A. (2021). Genetic Features of Craniosynostosis. In: Turgut, M., Tubbs, R.S., Turgut, A.T., Dumont, A.S. (eds) The Sutures of the Skull. Springer, Cham. https://doi.org/10.1007/978-3-030-72338-5_15

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  • DOI: https://doi.org/10.1007/978-3-030-72338-5_15

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