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

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Acrocephalopolysyndactyly type II
              • CRPT-1 and -2
            • Definitions

              • Characterized by preaxial polydactyly, soft tissue syndactyly, cardiac defects, ventral wall abnormalities, and craniosynostosis of multiple sutures

            IMAGING

            • General Features

              • Ultrasonographic Findings

                • Radiographic Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        CLINICAL ISSUES

                        • Presentation

                          • Natural History & Prognosis

                            • Treatment

                              Selected References

                              1. Dias MS et al: Identifying the misshapen head: craniosynostosis and related disorders. Pediatrics. 146(3), 2020
                              2. Hasan MR et al: RAB23 coordinates early osteogenesis by repressing FGF10-pERK1/2 and GLI1. Elife. 9, 2020
                              3. Lloyd DL et al: The Drosophila homologue of MEGF8 is essential for early development. Sci Rep. 8(1):8790, 2018
                              4. Rubio EI et al: Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes. Pediatr Radiol. 46(5):709-18, 2016
                              5. Haye D et al: Prenatal findings in carpenter syndrome and a novel mutation in RAB23. Am J Med Genet A. 164A(11):2926-30, 2014
                              6. Kadakia S et al: Carpenter syndrome: a review for the craniofacial surgeon. J Craniofac Surg. 25(5):1653-7, 2014
                              7. Victorine AS et al: Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly. Am J Med Genet A. 164A(3):820-3, 2014
                              8. Bhardwaj M et al: Caesarean section in a parturient with Carpenter syndrome and corrected Tetralogy of Fallot. Int J Obstet Anesth. 22(3):251-4, 2013
                              9. Cohen MM Jr. Perspectives on craniosynostosis: sutural biology et al: J Craniofac Surg. 2009 Mar;20 Suppl 1:646-51. Erratum in: J Craniofac Surg. 20(5):1629-30, 2009
                              10. Cohen MM Jr: Cloverleaf skulls: etiologic heterogeneity and pathogenetic variability. J Craniofac Surg. 2009 Mar;20 Suppl 1:652-6. Erratum in: J Craniofac Surg. 30(5):1629-30, 2009
                              11. Hidestrand P et al: Carpenter syndrome. J Craniofac Surg. 20(1):254-6, 2009
                              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

                                          • Acrocephalopolysyndactyly type II
                                          • CRPT-1 and -2
                                        • Definitions

                                          • Characterized by preaxial polydactyly, soft tissue syndactyly, cardiac defects, ventral wall abnormalities, and craniosynostosis of multiple sutures

                                        IMAGING

                                        • General Features

                                          • Ultrasonographic Findings

                                            • Radiographic Findings

                                              • Imaging Recommendations

                                                DIFFERENTIAL DIAGNOSIS

                                                  PATHOLOGY

                                                  • General Features

                                                    CLINICAL ISSUES

                                                    • Presentation

                                                      • Natural History & Prognosis

                                                        • Treatment

                                                          Selected References

                                                          1. Dias MS et al: Identifying the misshapen head: craniosynostosis and related disorders. Pediatrics. 146(3), 2020
                                                          2. Hasan MR et al: RAB23 coordinates early osteogenesis by repressing FGF10-pERK1/2 and GLI1. Elife. 9, 2020
                                                          3. Lloyd DL et al: The Drosophila homologue of MEGF8 is essential for early development. Sci Rep. 8(1):8790, 2018
                                                          4. Rubio EI et al: Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes. Pediatr Radiol. 46(5):709-18, 2016
                                                          5. Haye D et al: Prenatal findings in carpenter syndrome and a novel mutation in RAB23. Am J Med Genet A. 164A(11):2926-30, 2014
                                                          6. Kadakia S et al: Carpenter syndrome: a review for the craniofacial surgeon. J Craniofac Surg. 25(5):1653-7, 2014
                                                          7. Victorine AS et al: Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly. Am J Med Genet A. 164A(3):820-3, 2014
                                                          8. Bhardwaj M et al: Caesarean section in a parturient with Carpenter syndrome and corrected Tetralogy of Fallot. Int J Obstet Anesth. 22(3):251-4, 2013
                                                          9. Cohen MM Jr. Perspectives on craniosynostosis: sutural biology et al: J Craniofac Surg. 2009 Mar;20 Suppl 1:646-51. Erratum in: J Craniofac Surg. 20(5):1629-30, 2009
                                                          10. Cohen MM Jr: Cloverleaf skulls: etiologic heterogeneity and pathogenetic variability. J Craniofac Surg. 2009 Mar;20 Suppl 1:652-6. Erratum in: J Craniofac Surg. 30(5):1629-30, 2009
                                                          11. Hidestrand P et al: Carpenter syndrome. J Craniofac Surg. 20(1):254-6, 2009