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Child's Nervous System

, Volume 34, Issue 2, pp 205–216 | Cite as

Apert syndrome: magnetic resonance imaging (MRI) of associated intracranial anomalies

  • Ai Peng TanEmail author
  • Kshitij Mankad
Review Paper

Abstract

Introduction

Apert syndrome is one of the most common craniosynostosis syndrome caused by mutations in genes encoding fibroblast growth factor receptor 2 (FGFR2). It is characterized by multisuture craniosynostosis, midfacial hypoplasia, abnormal skull base development and syndactyly of all extremities. Apert syndrome is associated with a wide array of central nervous system (CNS) anomalies, possibly the cause of the common occurrence of mental deficiency in patients with Apert syndrome. These CNS anomalies can be broadly classified into two groups; (1) those that are primary malformations and (2) those that occur secondary to osseous deformity/malformation.

Conclusion

Familiarity with CNS anomalies associated with Apert syndrome is important to both clinicians and radiologist as it impacts on management and prognostication. Cognitive development of patients has been linked to associated CNS anomalies, timing of surgery and social aspects. These associated anomalies can be broadly classified into (1) those that are primary malformations and (2) those that occur secondary to osseous deformity/malformation, as illustrated in our review paper.

Keywords

Apert syndrome Craniosynostosis Magnetic resonance imaging (MRI) Fibroblast growth factor receptor 2 (FGFR2) 

Notes

Compliance with ethical standards

Conflict of interest

The authors have no conflicts of interest to disclose.

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© Springer-Verlag GmbH Germany, part of Springer Nature 2017

Authors and Affiliations

  1. 1.Department of Diagnostic RadiologyNational University Health SystemSingaporeSingapore
  2. 2.Department of NeuroradiologyGreat Ormond Street Hospital NHS Foundation TrustLondonUK

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