Júnior HM, de Aquino SN, Machado RA, Leão LL, Coletta RD, Burle Aguiar MJ. Pfeiffer syndrome: Clinical and genetic findings in five Brazilian families. Med Oral Patol Oral Cir Bucal. 2015 Jan 1;20 (1):e52-8.

 

 

doi:10.4317/medoral.20032

http://dx.doi.org/doi:10.4317/medoral.20032

 

 

 

1. Cohen MM. Craniosynostosis: Diagnosis, Evaluation and Management. New York: Raven Press; 1986. p. 269-288.

 

2. Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA. Genetics of craniosynostosis. Semin Pediatr Neurol. 2007;14:150-161.
http://dx.doi.org/10.1016/j.spen.2007.08.008

 

3. Derderian C, Seaward J. Syndromiccraniosynostosis. Semin Plast Surg. 2012;26:64-75.

 

4. Passos-Bueno MR, SertiéEacute AE, Jehee FS, Fraganiello R, Yeh E. Genetics of craniosynostosis: Genes, syndromes, mutations and genotype-phenotype correlations. Front Oral Biol. 2008;12:107-143.
http://dx.doi.org/10.1159/000115035

 

5. Vogels A, Fryns JP. Pfeiffer syndrome. Orphanet J Rare Dis. 2006;1:19.
http://dx.doi.org/10.1186/1750-1172-1-19

 

6. Cohen MM. Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am J Med Genet. 1993;45:300-307.
http://dx.doi.org/10.1002/ajmg.1320450305

 

7. Anantheswar YN, Venkataramana NK. Pediatric craniofacial surgery for craniosynostosis: Our experience and current concepts: Parts-2. J Pediatr Neurosci. 2009;4:100-107.
http://dx.doi.org/10.4103/1817-1745.57328

 

8. Johnson D, Wilkie AOW. Craniosynostosis. Eur J Hum Genet. 2011;19:369-376.
http://dx.doi.org/10.1038/ejhg.2010.235

 

9. Greig AV, Wagner J, Warren SM, Grayson B, McCarthy JG. Pfeiffer syndrome: analysis of a clinical series and development of a classification system. J Craniofac Surg. 2013;24:204-215.
http://dx.doi.org/10.1097/SCS.0b013e31826704be

 

10. Hackett A, Rowe L. FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report. Clin Dysmorphol. 2006;15:207-10.
http://dx.doi.org/10.1097/01.mcd.0000220608.40155.d4

 

11. Jezela-Stanek A, Krajewska-Walasek M. Genetic causes of syndromic craniosynostoses. Eur J Paediatr Neurol. 2013;17:221-224.
http://dx.doi.org/10.1016/j.ejpn.2012.09.009

 

12. Jay S, Wiberg A, Swan M, Lester T, Williams LJ, Taylor IB, et al. The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome-history repeating itself. Am J Med Genet A. 2013;161A:1158-1163.
http://dx.doi.org/10.1002/ajmg.a.35842

 

13. Kan SH, Elanko N, Johnson D, Cornejo-Roldan L, Cook J, Reich EW, et al. Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromiccraniosynostosis. Am J Hum Genet. 2002;70:472-486.
http://dx.doi.org/10.1086/338758

 

14. Lajeunie E, Heuertz S, El Ghouzzi V, Martinovic J, Renier D, Merrer ML, et al. Mutation screening in patients with syndromiccraniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. Eur J Hum Genet. 2006;14:289-298.
http://dx.doi.org/10.1038/sj.ejhg.5201558

 

15. Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S. Mutations in the fibroblast growth factor receptor 2- gene cause Crouzon syndrome. Nature Genet .1994;8:98-103.
http://dx.doi.org/10.1038/ng0994-98

 

16. Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, et al. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet. 1994;8:275-279.
http://dx.doi.org/10.1038/ng1194-275

 

17. Rutland P, Pulleyen LJ, Reardon W, Baraitser M, Hayward R, Jones Barry, et al. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nature Genet. 1995;9:173-176.
http://dx.doi.org/10.1038/ng0295-173

 

18. Bellus GA, Gaudenz K, Zackai EH, Clarke LA, Szabo J, Francomano CA, et al. Identical mutations in three different fibroblast growth factor receptor gene in autosomal dominant craniosynostosis syndromes. Nature Genet. 1996;14:174-176.
http://dx.doi.org/10.1038/ng1096-174

 

19. Muenke M, Schell U, Hehr A, Robin NH, Losken HW, Schinzel A, et al. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nat Genet. 1994;8:269-274.
http://dx.doi.org/10.1038/ng1194-269

 

20. Aidar M, Line SR. A simple and cost-effective protocol for DNA isolation from buccal epithelial cells. Braz Dent J. 2007;18:148-152.
http://dx.doi.org/10.1590/S0103-64402007000200012

 

21. Pfeiffer RA. Dminant hereditary acrocephalosyndactylia. Z Kinderheilkd. 1964;90:301-20.
http://dx.doi.org/10.1007/BF00447500

 

22. Passos-Bueno MR, Sertié AL, Richieri-Costa A, Alonso LG, Zatz M, Alonso N, et al. Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. Am J Med Genet. 1998;78:237-41.
http://dx.doi.org/10.1002/(SICI)1096-8628(19980707)78:3<237::AID-AJMG5>3.0.CO;2-M

 

23. Chokdeemboon C, Mahatumarat C, Rojvachiranonda N, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V. FGFR1 and FGFR2 mutations in Pfeiffer syndrome. J Craniofac Surg. 2013;24:150-2.
http://dx.doi.org/10.1097/SCS.0b013e3182646454

 

24. Schlessinger J, Plotnikov AN, Ibrahimi OA, Eliseenkova AV, Yeh BK, Yayon A, et al. Crystal structure of a ternary FGF-FGFR-heparin complex reveals a dual role for heparin in FGFR binding and dimerization. Mol Cell. 2000;6:743-50.
http://dx.doi.org/10.1016/S1097-2765(00)00073-3

 

25. Debiais F, Lemonnier J, Hay E, Delannoy P, Caverzasio J, Marie PJ. Fibroblast growth factor-2 (FGF-2) increases N-cadherin expression through protein kinase C and Src-kinase pathways in human calvaria osteoblasts. J Cell Biochem. 2001;81:68-81.
http://dx.doi.org/10.1002/1097-4644(20010401)81:1<68::AID-JCB1024>3.0.CO;2-S

 

26. Moloney DM, Wall SA, Ashworth GJ, Oldridge M, Glass IA, Francomano CA, et al. Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis. Lancet. 1997;349:1059-62.
http://dx.doi.org/10.1016/S0140-6736(96)09082-4

 

27. Oldridge M, Wilkie AO, Slaney SF, Poole MD, Pulleyn LJ, Rutland P, et al. Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. Hum Mol Genet. 1995;4:1077-1082.
http://dx.doi.org/10.1093/hmg/4.6.1077

 

28. Kress W, Collmann H, Büsse M, Halliger-Keller B, Mueller CR. Clustering of FGFR2 gene mutations in patients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). Cytogenet Cell Genet. 2000;91:134-137.
http://dx.doi.org/10.1159/000056833

 

29. Robertson SC, Meyer AN, Hart KC, Galvin BD, Webster MK, Donoghue DJ. Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain. Proc Natl Acad Sci U S A. 1998;95:4567-72.
http://dx.doi.org/10.1073/pnas.95.8.4567

 

30. Meyers GA, Day D, Goldberg R, Daentl DL, Przylepa KA, Abrams LJ, et al. FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson- Weiss and Pfeiffer syndromes: Evidence for missense changes, insertions and a deletion due to alternative RNA splicing. Am J Hum Genet. 1996;58:491-498.

 

31. Steinberger D, Vriend G, Mulliken JB, Müller U. The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of receptor. Hum Genet. 1998;102:145-150.
http://dx.doi.org/10.1007/s004390050668