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Craniofacial Syndromes

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Pediatric Neurosurgery for Clinicians

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Abstract

Syndromic craniosynostosis, a clinically and genetically heterogeneous congenital anomaly, is a generalized disorder of mesenchymal development. Although rare in general population, syndromes like Crouzon, Apert, Pfeiffer, Saethre-Chotzen, and Muenke are not infrequent in neurosurgical practice. There are similarities in the genetic basis of craniofacial syndromes because certain genes are able to affect the processes of bone growth and development. This explains common features often seen in these syndromes, such as bony anomalies of the head and limbs. Autosomal dominant inheritance pattern is the general rule. Pathological findings determine clinical manifestations and macroscopic pathological findings can often be seen as imaging findings. Cranial deformity is obvious and facial involvement raises functional and morphologic problems. Presentation varies from mild sutural involvement to severe pansynostosis, with characteristic craniofacial growth restrictions and a spectrum of extracranial dysmorphic manifestations. Clinical features form the basis of diagnosis, which can be aided with imaging studies and genetic testing. Syndromic craniosynostosis presents a management challenge. The complexity of maldevelopment necessitates a multidisciplinary approach, which is best delivered by dedicated craniofacial services. Surgical treatment is usually undertaken soon after diagnosis because of the risks associated with untreated craniosynostosis. Assessment of co-morbidities is a vital component of the provided care.

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Abbreviations

CSF:

Cerebrospinal fluid

CT:

Computed tomography

FGFR:

Fibroblast growth factor receptor

MRI:

Magnetic resonance imaging

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Authors and Affiliations

  1. Department of Neurosurgery, Birmingham Children’s Hospital, Birmingham, UK

    Ι. Ν. Mavridis, W. S. B. Wimalachandra & D. Rodrigues

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  2. W. S. B. Wimalachandra
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  3. D. Rodrigues
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Editors and Affiliations

  1. Neurosurgery, University of Ioannina, Ioannina, Greece

    Georgios Alexiou

  2. Neurosurgery, “Mitera’’ Children’s Hospital, Marousi, Greece

    Neofytos Prodromou

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Mavridis, Ι.Ν., Wimalachandra, W.S.B., Rodrigues, D. (2022). Craniofacial Syndromes. In: Alexiou, G., Prodromou, N. (eds) Pediatric Neurosurgery for Clinicians. Springer, Cham. https://doi.org/10.1007/978-3-030-80522-7_10

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  • DOI: https://doi.org/10.1007/978-3-030-80522-7_10

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