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

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          TERMINOLOGY

          • Synonyms

            • Acrocephalosyndactyly type V; ACS5
            • Noack syndrome
          • Definitions

            • Craniosynostosis syndrome with characteristic hand and foot anomalies

          IMAGING

          • General Features

            • Ultrasonographic Findings

              • Imaging Recommendations

                DIFFERENTIAL DIAGNOSIS

                  PATHOLOGY

                  • General Features

                    • Staging, Grading, & Classification

                      CLINICAL ISSUES

                      • Presentation

                        • Natural History & Prognosis

                          Selected References

                          1. Al-Adba B et al: Radiographic manifestations in Pfeiffer syndrome. Arthritis Rheumatol. 67(8):2282, 2015
                          2. Bessenyei B et al: Clinical and genetic characteristics of craniosynostosis in Hungary. Am J Med Genet A. 167(12):2985-91, 2015
                          3. Flöttmann R et al: FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies. Eur J Med Genet. 58(8):376-80, 2015
                          4. Goldstein JA et al: Complications in 54 frontofacial distraction procedures in patients with syndromic craniosynostosis. J Craniofac Surg. 26(1):124-8, 2015
                          5. Júnior HM et al: Pfeiffer syndrome: clinical and genetic findings in five Brazilian families. Med Oral Patol Oral Cir Bucal. 20(1):e52-8, 2015
                          6. Staal FC et al: Describing Crouzon and Pfeiffer syndrome based on principal component analysis. J Craniomaxillofac Surg. 43(4):528-36, 2015
                          7. Agochukwu NB et al: Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings. Int J Pediatr Otorhinolaryngol. 78(12):2037-47, 2014
                          8. Bessenyei B et al: Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation. Am J Med Genet A. 164A(12):3176-9, 2014
                          9. Nieuwenhuyzen-De Boer GM et al: Pfeiffer syndrome: the importance of prenatal diagnosis. Eur J Obstet Gynecol Reprod Biol. 181:339-40, 2014
                          10. Barry GP et al: A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings. Ophthalmic Genet. 31(4):193-5, 2010
                          11. Nout E et al: Three-dimensional airway changes after Le Fort III advancement in syndromic craniosynostosis patients. Plast Reconstr Surg. 126(2):564-71, 2010
                          12. Ranger A et al: Chiari type 1 malformation in an infant with type 2 Pfeiffer syndrome: further evidence of acquired pathogenesis. J Craniofac Surg. 21(2):427-31, 2010
                          13. 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
                          14. 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
                          15. Fearon JA et al: Pfeiffer syndrome: a treatment evaluation. Plast Reconstr Surg. 123(5):1560-9, 2009
                          16. Flapper WJ et al: Intellectual outcomes following protocol management in Crouzon, Pfeiffer, and Muenke syndromes. J Craniofac Surg. 20(4):1252-5, 2009
                          17. Kohan E et al: Pfeiffer syndrome twins: despite improved correction in one twin, growth disturbance results in similar need for subsequent monobloc advancement. J Craniofac Surg. 20(3):811-5, 2009
                          18. Medina M et al: Three-dimensional features of Pfeiffer syndrome. Int J Gynaecol Obstet. 105(3):266-7, 2009
                          19. Freeman L et al: Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation. Clin Dysmorphol. 17(3):223-4, 2008
                          20. Pallagatti P et al: A rare case of Pfeiffer's syndrome. J Obstet Gynaecol. 28(4):448-9, 2008
                          Related Anatomy
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                          Related Differential Diagnoses
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                          References
                          Tables

                          Tables

                          KEY FACTS

                          • Terminology

                            • Imaging

                              • Top Differential Diagnoses

                                • Pathology

                                  TERMINOLOGY

                                  • Synonyms

                                    • Acrocephalosyndactyly type V; ACS5
                                    • Noack syndrome
                                  • Definitions

                                    • Craniosynostosis syndrome with characteristic hand and foot anomalies

                                  IMAGING

                                  • General Features

                                    • Ultrasonographic Findings

                                      • Imaging Recommendations

                                        DIFFERENTIAL DIAGNOSIS

                                          PATHOLOGY

                                          • General Features

                                            • Staging, Grading, & Classification

                                              CLINICAL ISSUES

                                              • Presentation

                                                • Natural History & Prognosis

                                                  Selected References

                                                  1. Al-Adba B et al: Radiographic manifestations in Pfeiffer syndrome. Arthritis Rheumatol. 67(8):2282, 2015
                                                  2. Bessenyei B et al: Clinical and genetic characteristics of craniosynostosis in Hungary. Am J Med Genet A. 167(12):2985-91, 2015
                                                  3. Flöttmann R et al: FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies. Eur J Med Genet. 58(8):376-80, 2015
                                                  4. Goldstein JA et al: Complications in 54 frontofacial distraction procedures in patients with syndromic craniosynostosis. J Craniofac Surg. 26(1):124-8, 2015
                                                  5. Júnior HM et al: Pfeiffer syndrome: clinical and genetic findings in five Brazilian families. Med Oral Patol Oral Cir Bucal. 20(1):e52-8, 2015
                                                  6. Staal FC et al: Describing Crouzon and Pfeiffer syndrome based on principal component analysis. J Craniomaxillofac Surg. 43(4):528-36, 2015
                                                  7. Agochukwu NB et al: Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings. Int J Pediatr Otorhinolaryngol. 78(12):2037-47, 2014
                                                  8. Bessenyei B et al: Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation. Am J Med Genet A. 164A(12):3176-9, 2014
                                                  9. Nieuwenhuyzen-De Boer GM et al: Pfeiffer syndrome: the importance of prenatal diagnosis. Eur J Obstet Gynecol Reprod Biol. 181:339-40, 2014
                                                  10. Barry GP et al: A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings. Ophthalmic Genet. 31(4):193-5, 2010
                                                  11. Nout E et al: Three-dimensional airway changes after Le Fort III advancement in syndromic craniosynostosis patients. Plast Reconstr Surg. 126(2):564-71, 2010
                                                  12. Ranger A et al: Chiari type 1 malformation in an infant with type 2 Pfeiffer syndrome: further evidence of acquired pathogenesis. J Craniofac Surg. 21(2):427-31, 2010
                                                  13. 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
                                                  14. 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
                                                  15. Fearon JA et al: Pfeiffer syndrome: a treatment evaluation. Plast Reconstr Surg. 123(5):1560-9, 2009
                                                  16. Flapper WJ et al: Intellectual outcomes following protocol management in Crouzon, Pfeiffer, and Muenke syndromes. J Craniofac Surg. 20(4):1252-5, 2009
                                                  17. Kohan E et al: Pfeiffer syndrome twins: despite improved correction in one twin, growth disturbance results in similar need for subsequent monobloc advancement. J Craniofac Surg. 20(3):811-5, 2009
                                                  18. Medina M et al: Three-dimensional features of Pfeiffer syndrome. Int J Gynaecol Obstet. 105(3):266-7, 2009
                                                  19. Freeman L et al: Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation. Clin Dysmorphol. 17(3):223-4, 2008
                                                  20. Pallagatti P et al: A rare case of Pfeiffer's syndrome. J Obstet Gynaecol. 28(4):448-9, 2008