Ai Peng Tan1, Kshitij Mankad2. 1. Department of Diagnostic Radiology, National University Health System, 5 Lower Kent Ridge Road, Singapore, 119074, Singapore. ai_peng_tan@nuhs.edu.sg. 2. Department of Neuroradiology, Great Ormond Street Hospital NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK.
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.
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.
Authors: Xiaona Lu; Rajendra Sawh-Martinez; Antonio Jorge Forte; Robin Wu; Raysa Cabrejo; Alexander Wilson; Derek M Steinbacher; Michael Alperovich; Nivaldo Alonso; John A Persing Journal: Plast Reconstr Surg Glob Open Date: 2019-03-20
Authors: Pablo M Munarriz; Beatriz Pascual; Ana M Castaño-Leon; Ignacio García-Recuero; Marta Redondo; Ana Martínez de Aragón; Ana Romance Journal: Surg Neurol Int Date: 2020-10-29