Bookmarks
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
- Al-Adba B et al: Radiographic manifestations in Pfeiffer syndrome. Arthritis Rheumatol. 67(8):2282, 2015
- Bessenyei B et al: Clinical and genetic characteristics of craniosynostosis in Hungary. Am J Med Genet A. 167(12):2985-91, 2015
- 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
- Goldstein JA et al: Complications in 54 frontofacial distraction procedures in patients with syndromic craniosynostosis. J Craniofac Surg. 26(1):124-8, 2015
- 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
- Staal FC et al: Describing Crouzon and Pfeiffer syndrome based on principal component analysis. J Craniomaxillofac Surg. 43(4):528-36, 2015
- Agochukwu NB et al: Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings. Int J Pediatr Otorhinolaryngol. 78(12):2037-47, 2014
- 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
- Nieuwenhuyzen-De Boer GM et al: Pfeiffer syndrome: the importance of prenatal diagnosis. Eur J Obstet Gynecol Reprod Biol. 181:339-40, 2014
- 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
- 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
- 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
- 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
- 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
- Fearon JA et al: Pfeiffer syndrome: a treatment evaluation. Plast Reconstr Surg. 123(5):1560-9, 2009
- Flapper WJ et al: Intellectual outcomes following protocol management in Crouzon, Pfeiffer, and Muenke syndromes. J Craniofac Surg. 20(4):1252-5, 2009
- 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
- Medina M et al: Three-dimensional features of Pfeiffer syndrome. Int J Gynaecol Obstet. 105(3):266-7, 2009
- 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
- Pallagatti P et al: A rare case of Pfeiffer's syndrome. J Obstet Gynaecol. 28(4):448-9, 2008
Related Anatomy
Loading...
Related Differential Diagnoses
Loading...
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
- Al-Adba B et al: Radiographic manifestations in Pfeiffer syndrome. Arthritis Rheumatol. 67(8):2282, 2015
- Bessenyei B et al: Clinical and genetic characteristics of craniosynostosis in Hungary. Am J Med Genet A. 167(12):2985-91, 2015
- 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
- Goldstein JA et al: Complications in 54 frontofacial distraction procedures in patients with syndromic craniosynostosis. J Craniofac Surg. 26(1):124-8, 2015
- 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
- Staal FC et al: Describing Crouzon and Pfeiffer syndrome based on principal component analysis. J Craniomaxillofac Surg. 43(4):528-36, 2015
- Agochukwu NB et al: Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings. Int J Pediatr Otorhinolaryngol. 78(12):2037-47, 2014
- 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
- Nieuwenhuyzen-De Boer GM et al: Pfeiffer syndrome: the importance of prenatal diagnosis. Eur J Obstet Gynecol Reprod Biol. 181:339-40, 2014
- 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
- 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
- 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
- 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
- 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
- Fearon JA et al: Pfeiffer syndrome: a treatment evaluation. Plast Reconstr Surg. 123(5):1560-9, 2009
- Flapper WJ et al: Intellectual outcomes following protocol management in Crouzon, Pfeiffer, and Muenke syndromes. J Craniofac Surg. 20(4):1252-5, 2009
- 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
- Medina M et al: Three-dimensional features of Pfeiffer syndrome. Int J Gynaecol Obstet. 105(3):266-7, 2009
- 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
- Pallagatti P et al: A rare case of Pfeiffer's syndrome. J Obstet Gynaecol. 28(4):448-9, 2008
