A case of Pfeiffer Syndrome

Journal of Korean Medical Science

Volumn 21, Issue 2, 2006, Pages 374-378

  Moon, Sung Park ^a   Jae, Eon Yoo ^a   Chung, Jaiho ^a   Soo, Han Yoon ^a  

^a Ajou University School of Medicine   (South Korea)

Author keywords

Acrocephalosyndactylia; Craniosynostoses; Syndactyly

Indexed keywords

EID: 33646806505     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2006.21.2.374     Document Type: Article

References (25)

1. Pfeiffer RA. Dominant hereditary acrocephalosyndactylia. Z Kinderheilkd 1964; 90: 301-20.
2. Martsolf JT, Cracco JB, Carpenter GG, O'Hara AE. Pfeiffer syndrome: an unusual type of acrocephalosyndactyly with broad thumbs and great toes. Am J Dis Child 1971; 121: 257-62.
3. Moore MH, Cantrell SB, Trott JA, David DJ. Pfeiffer syndrome: A clinical review. Cleft Palate-Craniofac J 1995; 32: 62-70.
4. Muenke M, Schell U, Hehr A, Robin NH, Losken HW, Schinzel A, Pulleyn LJ, Rutland P, Reardon W, Malcolm S, Winter RM. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nat Genet 1994; 8: 269-74.
5. Robin NH, Scott JA, Arnold JE, Goldstein JA, Shilling BB, Marion RW, Cohen MM Jr. Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: implications for classification. Am J Med Genet 1998; 75: 240-4.
6. Schell U, Hehr A, Feldman GJ, Robin NH, Zackai EH, de Die-Smulders C, Viskochil DH, Stewart JM, Wolff G, Ohashi H, Price RA, Cohen MM Jr, Muenke M. Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. Hum Mol Genet 1995; 4: 323-8.
7. Teebi AS, Kennedy S, Chun K, Ray PN. Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2. Am J Med Genet 2002; 107: 43-7.
8. Goodrich JT. Craniofacial syndromes. In Principles and practice of pediatric neurosurgery. Albright AL, Pollack IF, Adelson PD, eds., Thieme New York, 1999; 243-59.
9. Plomp AS, Hamel BC, Cobben JM, Verloes A, Offermans JP, Lajeunie E, Fryns JP, de Die-Smulders CE. Pfeiffer syndrome type 2: further delineation and review of the literature. Am J Med Genet 1998; 75: 245-51.
10. Nagase T, Nagase M, Hirose S, Ohmori K. Japanese sisters with Pfeiffer syndrome and achondroplasia: a mutation analysis. J Craniofac Surg 1998; 9: 477-80.
11. Sakai N, Tokunaga K, Yamazaki Y, Shida H, Sakata Y, Susami T, Nakakita N, Takato T, Uchinuma E. Sequence analysis of fibroblast growth factor receptor 2 (FGFR2) in Japanese patients with craniosynostosis. J Craniofac Surg 2001; 12: 580-5.
12. Cohen MM Jr. Pfeiffer syndrome update, clinical subtypes and guidelines for differential diagnosis. Am J Med Genet 1993; 45: 300-7.
13. Goriely A, McVean GA, Rojmyr M, Ingemarsson B, Wilkie AO. Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line. Science 2003; 301: 643-6.
14. Stone P, Trevenen CL, Mitchell I, Rudd N. Congenital tracheal stenosis in Pfeiffer syndrome. Clin Genet 1990; 38: 145-8.
15. Vallino-Napoli LD. Audiologic and otologic characteristics of Pfeiffer syndrome. Cleft Palate Craniofac J 1996; 33: 524-9.
16. McCarthy JG, Glasberg SB, Cutting CB, Epstein FJ, Grayson BH, Ruff G, Thorne CH, Wisoff J, Zide BM. Twenty-year experience with early surgery for craniosynostosis: II. The craniofacial synostosis syndromes and pansynostosis - results and unsolved problems. Plas Recon Surg 1995; 96: 284-98.
17. Wilkie AO, Patey SJ, Kan SH, van den Ouweland AM, Hamel BC. FGFs, their receptors, and human limb malformations: clinical and molecular correlations. Am J Med Genet 2002; 112: 266-78.
18. Martsolf JT, Cracco JB, Carpenter GG, O'Hara AE. Pfeiffer syndrome: an unusual type of acrocephalosyndactyly with broad thumbs and great toes. Am J Dis Child 1971; 121: 257-62.
19. Panthaki ZJ, Armstrong MB. Hand abnormalities associated with craniofacial syndromes. J Craniofac Surg 2003; 14: 709-12.
20. Passos-Bueno MR, Sertie AL, Zatz M, Richieri-Costa A. Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene? Am J Med Genet 1997; 71: 243-5.
21. Rutland P, Pulleyn LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter RM, Oldridge M, Slaney SF, Poole MD, Wilkie AO. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nature Genet 1995; 9: 173-6.
22. Hajihosseini MK, Wilson S, De Moerlooze L, Dickson C. A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes. Proc Natl Acad Sci USA 2001; 98: 3855-60.
23. Bae SC, Lee EH, Park MS, Hahn SH, Hong CH. A case of FGFR2 exon IIIc mutation in Crouzon syndrome. J Korean Pediatr Soc 1998; 41: 1717-21.
24. Chun K, Teebi AS, Jung JH, Kennedy S, Laframboise R, Meschino WS, Nakabayashi K, Scherer SW, Ray PN, Teshima I. Genetic analysis of patients with the Saethre-Chotzen phenotype. Am J Med Genet 2002; 110: 136-43.
25. Gripp KW, Zackai EH, Cohen MM Jr. Clinical and molecular diagnosis should be consistent. Am J Med Genet A 2003; 121: 188-9.