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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

            • Diagnostic Checklist

              TERMINOLOGY

              • Synonyms

                • Acrocephalosyndactyly type I
              • Definitions

                • Craniofacial dysostosis characterized by craniosynostosis, midface hypoplasia, and 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. 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
                                  2. Hill CA et al: Postnatal brain and skull growth in an Apert syndrome mouse model. Am J Med Genet A. 161A(4):745-57, 2013
                                  3. 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
                                  4. Moes JA et al: Three-dimensional ultrasound to detect Apert syndrome and improve patient understanding. S D Med. 64(4):125-7, 2011
                                  5. 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
                                  6. 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
                                  7. 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
                                  8. Herman TE et al: Apert syndrome with omphalocele. J Perinatol. 30(10):695-7, 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. Patel B et al: Postmortem computed tomography in a case of Apert Syndrome: correlation with conventional autopsy and prenatal ultrasound. Ultrasound Q. 26(4):249-53, 2010
                                  13. Weber B et al: Prenatal diagnosis of apert syndrome with cloverleaf skull deformity using ultrasound, fetal magnetic resonance imaging and genetic analysis. Fetal Diagn Ther. 27(1):51-6, 2010
                                  14. Athanasiadis AP et al: Apert syndrome: the current role of prenatal ultrasound and genetic analysis in diagnosis and counselling. Fetal Diagn Ther. 24(4):495-8, 2008
                                  15. Breugem CC et al: Monozygotic twins with Apert syndrome. Cleft Palate Craniofac J. 45(1):101-4, 2008
                                  16. David AL et al: Diagnosis of Apert syndrome in the second-trimester using 2D and 3D ultrasound. Prenat Diagn. 27(7):629-32, 2007
                                  17. Robin NH et al: FGFR-Related Craniosynostosis Syndromes 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

                                            • Diagnostic Checklist

                                              TERMINOLOGY

                                              • Synonyms

                                                • Acrocephalosyndactyly type I
                                              • Definitions

                                                • Craniofacial dysostosis characterized by craniosynostosis, midface hypoplasia, and 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. 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
                                                                  2. Hill CA et al: Postnatal brain and skull growth in an Apert syndrome mouse model. Am J Med Genet A. 161A(4):745-57, 2013
                                                                  3. 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
                                                                  4. Moes JA et al: Three-dimensional ultrasound to detect Apert syndrome and improve patient understanding. S D Med. 64(4):125-7, 2011
                                                                  5. 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
                                                                  6. 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
                                                                  7. 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
                                                                  8. Herman TE et al: Apert syndrome with omphalocele. J Perinatol. 30(10):695-7, 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. Patel B et al: Postmortem computed tomography in a case of Apert Syndrome: correlation with conventional autopsy and prenatal ultrasound. Ultrasound Q. 26(4):249-53, 2010
                                                                  13. Weber B et al: Prenatal diagnosis of apert syndrome with cloverleaf skull deformity using ultrasound, fetal magnetic resonance imaging and genetic analysis. Fetal Diagn Ther. 27(1):51-6, 2010
                                                                  14. Athanasiadis AP et al: Apert syndrome: the current role of prenatal ultrasound and genetic analysis in diagnosis and counselling. Fetal Diagn Ther. 24(4):495-8, 2008
                                                                  15. Breugem CC et al: Monozygotic twins with Apert syndrome. Cleft Palate Craniofac J. 45(1):101-4, 2008
                                                                  16. David AL et al: Diagnosis of Apert syndrome in the second-trimester using 2D and 3D ultrasound. Prenat Diagn. 27(7):629-32, 2007
                                                                  17. Robin NH et al: FGFR-Related Craniosynostosis Syndromes 1993