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
|
|
|
|