Cleft palate in Pfeiffer syndrome

Journal of Craniofacial Surgery

Volumn 20, Issue 5, 2009, Pages 1375-1377

  Stoler, Joan M ^a   Rosen, Heather ^a,b   Desai, Urmen ^a,c   Mulliken, John B ^a   Meara, John G ^a   Rogers, Gary F ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^c TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Choanal atresia; Cleft palate; Craniosynostosis; Fibroblast growth factor receptor (FGFR); Pfeiffer syndrome

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 1; FIBROBLAST GROWTH FACTOR RECEPTOR 2;

ACROCEPHALOSYNDACTYLY; ARTICLE; CHOANA ATRESIA; CLEFT PALATE; CRANIOFACIAL SYNOSTOSIS; FGFR1 GENE; FGFR2 GENE; GENE; GENE MUTATION; HIGH ARCHED PALATE; HUMAN; PRIORITY JOURNAL;

ACROCEPHALOSYNDACTYLIA; BOSTON; CHOANAL ATRESIA; CLEFT PALATE; FEMALE; GENETIC TESTING; HUMANS; MALE; MUTATION; PALATE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 1; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RETROSPECTIVE STUDIES; VELOPHARYNGEAL INSUFFICIENCY;

EID: 70349694732     PISSN: 10492275     EISSN: None     Source Type: Journal    
DOI: 10.1097/SCS.0b013e3181ae42e4     Document Type: Article

References (30)

1. Murray JC, Schutte BC. Cleft palate: players, pathways, and pursuits. J Clin Invest 2004;113:1676-1678
2. Slaney SF, Oldridge M, Hurst JA, et al. Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. Am J Hum Genet 1996;58:923-932 (Pubitemid 26115163)
3. Stoler JM, Rogers GF, Mulliken JB. The frequency of palatal anomalies in Saethre-Chotzen syndrome. Cleft Palate Craniofac J 2009;46:280-284
4. Rice DP, Aberg T, Chan Y, et al. Integration of FGF and TWIST in calvarial bone and suture development. Development 2000;127:1845-1855 (Pubitemid 30311788)
5. Hornik C, Brand-Saberi B, Rudloff S, et al. Twist is an integrator of SHH, FGF, and BMP signaling. Anat Embryol (Berl) 2004;209:31-39
6. Connerney J, Andreeva V, Leshem Y, et al. Twist1 homodimers enhance FGF responsiveness of the cranial sutures and promote suture closure. Dev Biol 2008;318:323-334
7. Bloch-Zupan A, Hunter N, Manthey A, et al. R-twist gene expression during rat palatogenesis. Int J Dev Biol 2001;45:397-404 (Pubitemid 32367536)
8. Glaser RL, Jiang W, Boyadjiev SA, et al. Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am J Hum Genet 2000;66:768-777 (Pubitemid 30470482)
9. Muenke M, Schell U, Hehr A, et al. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nat Genet 1994;8:269-274 (Pubitemid 24338739)
10. Cornejo-Roldan LR, Roessler E, Muenke M. Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. Hum Genet 1999;104:425-431 (Pubitemid 29286801)
11. Piccione M, Antona V, Niceta M, et al. Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome. Eur J Pediatr 2008;168:1135-1139
12. Naveh Y, Friedman A. Pfeiffer syndrome: report of a family and review of the literature. J Med Genet 1976;13:277-280
13. Cohen MM Jr. Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am J Med Genet 1993;45:300-307
14. Stevenson RE, Hall JG, Goodman RM. Human Malformations and Related Anomalies. Vol II. New York, NY: Oxford University Press, 1993:377
15. Gorlin RJ, Cohen MM, Hennekam RCM. Syndromes of the Head and Neck. Vol 42. 4th ed. New York, NY: Oxford University Press, 2001:1283
16. Peterson SJ, Pruzansky S. Palatal anomalies in the syndromes of Apert and Crouzon. Cleft Palate J 1974;11:394-403
17. Sanchex HM, De Negrotti TC. Variable expression in Pfeiffer syndrome. J Med Genet 1981;18:73-75
18. Plomp AS, Hamel BC, Cobben JM, et al. Pfeiffer syndrome type 2: further delineation and review of the literature. Am J Med Genet 1998;75:245-251 (Pubitemid 28076848)
19. Kreiborg S, Cohen MM Jr. The oral manifestations of Apert syndrome. J Craniofac Genet Dev Biol 1992;12:41-48
20. Britto JA, Evans RD, Hayward RD, et al. Toward pathogenesis of Apert cleft palate: FGF, FGFR, and TGF beta genes are differentially expressed in sequential stages of human palatal shelf fusion. Cleft Palate Craniofac J 2002;39:332-340
21. Oyamada MK, Ferreira HS, Hoff M. Pfeiffer syndrome type 2 - case report. Sao Paulo Med J 2003;121:176-179 (Pubitemid 37259264)
22. Hockstein NG, McDonald-McGinn D, Zackai E, et al. Tracheal anomalies in Pfeiffer syndrome. Arch Otolaryngol Head Neck Surg 2004;130:1298-1302
23. Park MS, Yoo JE, Chung J, et al. A case of Pfeiffer syndrome. J Korean Med Sci 2006;21:374-378
24. Robin NH, Scott JA, Arnold JE, et al. Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: implications for classification. Am J Med Genet 1998;75:240-244
25. Gonzales M, Heuertz S, Martinovic J, et al. Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation. Clin Genet 2005;68:179-181 (Pubitemid 40990631)
26. Lee HJ, Cho DY, Tsai FJ, et al. Antley-Bixler syndrome, description of two new cases and review of the literature. Pediatr Neurosurg 2001;34:33-39 (Pubitemid 32245402)
27. McGaughran J, Sinnott S, Susman R, et al. A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype. Clin Dysmorphol 2006;15:89-93 (Pubitemid 44481241)
28. Shotelersuk V, Ittiwut C, Srivuthana S, et al. Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2. Am J Med Genet 2002;113:4-8 (Pubitemid 35192580)
29. Okajima K, Robinson LK, Hart MA, et al. Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. Am J Med Genet 1999;85:160-170 (Pubitemid 29288342)
30. Nanni L, Ming JE, Du Y, et al. SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature. Am J Med Genet 2001;102:1-10 (Pubitemid 32623257)