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

Abstract

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. 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.