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Apert Syndrome
Janice L. B. Byrne, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Acrocephalosyndactyly type I
            • Definitions

              • Rare craniosynostosis syndrome characterized by craniosynostosis, midface hypoplasia, and severe syndactyly of hands and feet

            IMAGING

            • General Features

              • Ultrasonographic Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      CLINICAL ISSUES

                      • Presentation

                        • Demographics

                          • Natural History & Prognosis

                            • Treatment

                              DIAGNOSTIC CHECKLIST

                              • Image Interpretation Pearls

                                Selected References

                                1. Tonni G et al: Early prenatal ultrasound and molecular diagnosis of apert syndrome: case report with postmortem CT-scan and chondral plate histology. Fetal Pediatr Pathol. 1-12, 2020
                                2. Tan AP et al: Apert syndrome: magnetic resonance imaging (MRI) of associated intracranial anomalies. Childs Nerv Syst. 34(2):205-16, 2018
                                3. Werner H et al: Prenatal diagnosis of Apert syndrome using ultrasound, magnetic resonance imaging, and three-dimensional virtual/physical models: three case series and literature review. Childs Nerv Syst. 34(8):1563-71, 2018
                                4. Giancotti A et al: Comparison of ultrasound and magnetic resonance imaging in the prenatal diagnosis of Apert syndrome: report of a case. Childs Nerv Syst. 30(8):1445-8, 2014
                                5. Au PK et al: Detection of the S252W mutation in fibroblast growth factor receptor 2 (FGFR2) in fetal DNA from maternal plasma in a pregnancy affected by Apert syndrome. Prenat Diagn. 31(2):218-20, 2011
                                6. Ang BU et al: Dura in the pathogenesis of syndromic craniosynostosis: fibroblast growth factor receptor 2 mutations in dural cells promote osteogenic proliferation and differentiation of osteoblasts. J Craniofac Surg. 21(2):462-7, 2010
                                7. Chen CP et al: Apert syndrome associated with upper airway obstruction and gastroesophageal reflux inducing polyhydramnios in the third trimester. Taiwan J Obstet Gynecol. 49(2):231-4, 2010
                                8. Du X et al: Dynamic morphological changes in the skulls of mice mimicking human Apert syndrome resulting from gain-of-function mutation of FGFR2 (P253R). J Anat. 217(2):97-105, 2010
                                9. Lee DS et al: Eugène Apert and his contributions to plastic surgery. Ann Plast Surg. 64(3):362-5, 2010
                                10. Martínez-Abadías N et al: Beyond the closed suture in apert syndrome mouse models: evidence of primary effects of FGFR2 signaling on facial shape at birth. Dev Dyn. 239(11):3058-71, 2010
                                11. Miraoui H et al: Increased EFG- and PDGFalpha-receptor signaling by mutant FGF-receptor 2 contributes to osteoblast dysfunction in Apert craniosynostosis. Hum Mol Genet. 19(9):1678-89, 2010
                                12. Faro C et al: Metopic suture in fetuses with Apert syndrome at 22-27 weeks of gestation. Ultrasound Obstet Gynecol. 27(1):28-33, 2006
                                13. Robin NH et al: FGFR-related craniosynostosis syndromes. In GeneReviews® [Internet]. University of Washington, Seattle, 1993
                                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 type I
                                          • Definitions

                                            • Rare craniosynostosis syndrome characterized by craniosynostosis, midface hypoplasia, and severe syndactyly of hands and feet

                                          IMAGING

                                          • General Features

                                            • Ultrasonographic Findings

                                              • Imaging Recommendations

                                                DIFFERENTIAL DIAGNOSIS

                                                  PATHOLOGY

                                                  • General Features

                                                    CLINICAL ISSUES

                                                    • Presentation

                                                      • Demographics

                                                        • Natural History & Prognosis

                                                          • Treatment

                                                            DIAGNOSTIC CHECKLIST

                                                            • Image Interpretation Pearls

                                                              Selected References

                                                              1. Tonni G et al: Early prenatal ultrasound and molecular diagnosis of apert syndrome: case report with postmortem CT-scan and chondral plate histology. Fetal Pediatr Pathol. 1-12, 2020
                                                              2. Tan AP et al: Apert syndrome: magnetic resonance imaging (MRI) of associated intracranial anomalies. Childs Nerv Syst. 34(2):205-16, 2018
                                                              3. Werner H et al: Prenatal diagnosis of Apert syndrome using ultrasound, magnetic resonance imaging, and three-dimensional virtual/physical models: three case series and literature review. Childs Nerv Syst. 34(8):1563-71, 2018
                                                              4. Giancotti A et al: Comparison of ultrasound and magnetic resonance imaging in the prenatal diagnosis of Apert syndrome: report of a case. Childs Nerv Syst. 30(8):1445-8, 2014
                                                              5. Au PK et al: Detection of the S252W mutation in fibroblast growth factor receptor 2 (FGFR2) in fetal DNA from maternal plasma in a pregnancy affected by Apert syndrome. Prenat Diagn. 31(2):218-20, 2011
                                                              6. Ang BU et al: Dura in the pathogenesis of syndromic craniosynostosis: fibroblast growth factor receptor 2 mutations in dural cells promote osteogenic proliferation and differentiation of osteoblasts. J Craniofac Surg. 21(2):462-7, 2010
                                                              7. Chen CP et al: Apert syndrome associated with upper airway obstruction and gastroesophageal reflux inducing polyhydramnios in the third trimester. Taiwan J Obstet Gynecol. 49(2):231-4, 2010
                                                              8. Du X et al: Dynamic morphological changes in the skulls of mice mimicking human Apert syndrome resulting from gain-of-function mutation of FGFR2 (P253R). J Anat. 217(2):97-105, 2010
                                                              9. Lee DS et al: Eugène Apert and his contributions to plastic surgery. Ann Plast Surg. 64(3):362-5, 2010
                                                              10. Martínez-Abadías N et al: Beyond the closed suture in apert syndrome mouse models: evidence of primary effects of FGFR2 signaling on facial shape at birth. Dev Dyn. 239(11):3058-71, 2010
                                                              11. Miraoui H et al: Increased EFG- and PDGFalpha-receptor signaling by mutant FGF-receptor 2 contributes to osteoblast dysfunction in Apert craniosynostosis. Hum Mol Genet. 19(9):1678-89, 2010
                                                              12. Faro C et al: Metopic suture in fetuses with Apert syndrome at 22-27 weeks of gestation. Ultrasound Obstet Gynecol. 27(1):28-33, 2006
                                                              13. Robin NH et al: FGFR-related craniosynostosis syndromes. In GeneReviews® [Internet]. University of Washington, Seattle, 1993