link
Bookmarks
 (0)
Obstetrics
Diagnosis
Syndromes and Multisystem Disorders
Apert Syndrome
Apert Syndrome
Janice L. B. Byrne, MD
To access 4,300 diagnoses written by the world's leading experts in radiology, please log in or subscribe.Log inSubscribe
0
3
0
1

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: <i>FGFR</i>-Related Craniosynostosis Syndromes 1993
                                  Related Anatomy
                                  Loading...
                                  Related Differential Diagnoses
                                  Loading...
                                  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: <i>FGFR</i>-Related Craniosynostosis Syndromes 1993
                                                                  Contact UsStoreTerms and ConditionsRegistered User AgreementPrivacy PolicyHelp