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Apert Syndrome
Caroline D. Robson, MBChB
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Acrocephalosyndactyly
            • Definitions

              • Congenital craniofacial disorder characterized by craniosynostosis, midface hypoplasia, & syndactyly/symphalangism due to fibroblast growth factor receptor 2 (FGFR2) mutation

            IMAGING

            • General Features

              • CT Findings

                • MR Findings

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      CLINICAL ISSUES

                      • Presentation

                        • Demographics

                          • Natural History & Prognosis

                            • Treatment

                              DIAGNOSTIC CHECKLIST

                              • Consider

                                • Image Interpretation Pearls

                                  Selected References

                                  1. Zhou G et al: Inner ear anomalies and conductive hearing loss in children with Apert syndrome: an overlooked otologic aspect. Otol Neurotol. 30(2):184-9, 2009
                                  2. Phillips SG et al: Congenital conductive hearing loss in Apert syndrome. Otolaryngol Head Neck Surg. 95(4):429-33, 1986
                                  Related Anatomy
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                                  Related Differential Diagnoses
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                                  References
                                  Tables

                                  Tables

                                  KEY FACTS

                                  • Terminology

                                    • Imaging

                                      • Top Differential Diagnoses

                                        • Pathology

                                          • Clinical Issues

                                            TERMINOLOGY

                                            • Synonyms

                                              • Acrocephalosyndactyly
                                            • Definitions

                                              • Congenital craniofacial disorder characterized by craniosynostosis, midface hypoplasia, & syndactyly/symphalangism due to fibroblast growth factor receptor 2 (FGFR2) mutation

                                            IMAGING

                                            • General Features

                                              • CT Findings

                                                • MR Findings

                                                  DIFFERENTIAL DIAGNOSIS

                                                    PATHOLOGY

                                                    • General Features

                                                      CLINICAL ISSUES

                                                      • Presentation

                                                        • Demographics

                                                          • Natural History & Prognosis

                                                            • Treatment

                                                              DIAGNOSTIC CHECKLIST

                                                              • Consider

                                                                • Image Interpretation Pearls

                                                                  Selected References

                                                                  1. Zhou G et al: Inner ear anomalies and conductive hearing loss in children with Apert syndrome: an overlooked otologic aspect. Otol Neurotol. 30(2):184-9, 2009
                                                                  2. Phillips SG et al: Congenital conductive hearing loss in Apert syndrome. Otolaryngol Head Neck Surg. 95(4):429-33, 1986