Bookmarks
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
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
- Mavridis IN et al: Nervous system involvement in Pfeiffer syndrome. Childs Nerv Syst. 37(2):367-74, 2020
- Pfeifer CM: Kleeblattschädel in Pfeiffer syndrome type II. Radiol Case Rep. 15(5):474-8, 2020
- Raposo-Amaral CE et al: Pfeiffer syndrome: a therapeutic algorithm based on a modified grading scale. Plast Reconstr Surg Glob Open. 8(4):e2788, 2020
- Peña-Padilla C et al: Pfeiffer syndrome type 3 and prune belly anomaly in a female: case report and review. Fetal Pediatr Pathol. 38(5):412-7, 2019
- Rai R et al: Pfeiffer type 2 syndrome: review with updates on its genetics and molecular biology. Childs Nerv Syst. 35(9):1451-5, 2019
- Sawh-Martinez R et al: Syndromic craniosynostosis. Clin Plast Surg. 46(2):141-55, 2019
- Wenger TL et al: A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality. Genet Med. 21(2):471-6, 2019
- Giancotti A et al: Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis. J Matern Fetal Neonatal Med. 30(18):2225-31, 2017
- Al-Adba B et al: Radiographic manifestations in Pfeiffer syndrome. Arthritis Rheumatol. 67(8):2282, 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
- 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
- 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
- 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
Related Anatomy
Loading...
Related Differential Diagnoses
Loading...
References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
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
- Mavridis IN et al: Nervous system involvement in Pfeiffer syndrome. Childs Nerv Syst. 37(2):367-74, 2020
- Pfeifer CM: Kleeblattschädel in Pfeiffer syndrome type II. Radiol Case Rep. 15(5):474-8, 2020
- Raposo-Amaral CE et al: Pfeiffer syndrome: a therapeutic algorithm based on a modified grading scale. Plast Reconstr Surg Glob Open. 8(4):e2788, 2020
- Peña-Padilla C et al: Pfeiffer syndrome type 3 and prune belly anomaly in a female: case report and review. Fetal Pediatr Pathol. 38(5):412-7, 2019
- Rai R et al: Pfeiffer type 2 syndrome: review with updates on its genetics and molecular biology. Childs Nerv Syst. 35(9):1451-5, 2019
- Sawh-Martinez R et al: Syndromic craniosynostosis. Clin Plast Surg. 46(2):141-55, 2019
- Wenger TL et al: A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality. Genet Med. 21(2):471-6, 2019
- Giancotti A et al: Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis. J Matern Fetal Neonatal Med. 30(18):2225-31, 2017
- Al-Adba B et al: Radiographic manifestations in Pfeiffer syndrome. Arthritis Rheumatol. 67(8):2282, 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
- 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
- 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
- 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
