The frequency of palatal anomalies in Saethre-Chotzen syndrome

Cleft Palate-Craniofacial Journal

Volumn 46, Issue 3, 2009, Pages 280-284

  Stoler, Joan M ^a   Rogers, Gary F ^a   Mulliken, John B ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Blepharoptosis; Cleft palate; Saethre Chotzen syndrome; TWIST

Indexed keywords

TRANSCRIPTION FACTOR TWIST;

ACROCEPHALOSYNDACTYLY; ARTICLE; CLEFT PALATE; CLINICAL EVALUATION; DIFFERENTIAL DIAGNOSIS; ECHOCARDIOGRAPHY; ECHOGRAPHY; FOLLOW UP; GENE DELETION; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; KARYOTYPING; MAJOR CLINICAL STUDY; PALATE MALFORMATION; PREVALENCE; PRIORITY JOURNAL; PTOSIS; RETROGNATHIA; RETROSPECTIVE STUDY;

ACROCEPHALOSYNDACTYLIA; BLEPHAROPTOSIS; BOSTON; CLEFT PALATE; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENE DELETION; GENETIC VARIATION; HUMANS; INFANT, NEWBORN; NUCLEAR PROTEINS; PALATE; PALATE, SOFT; PHENOTYPE; PREVALENCE; RETROSPECTIVE STUDIES; TWIST TRANSCRIPTION FACTOR; UVULA;

EID: 65949118474     PISSN: 10556656     EISSN: 15451569     Source Type: Journal    
DOI: 10.1597/08-088.1     Document Type: Article

References (34)

1. Aase JM, Smith DW. Facial asymmetry and abnormalities of palms and ears: a dominantly inherited developmental syndrome. J Pediatrics. 1970;76:928-930.
2. Bartsocas CS, Weber AL, Crawford JH. Acrocephalosyndactyly type 3: Chotzen's syndrome. J Pediatr. 1970;77:267-272.
3. Bianchi E, Arco M, Podest AF, Grana M, Fiori P, Beluffi G. A family with the Saethre-Chotzen syndrome. Am J Med Genet. 1985;22:649-658.
4. Bloch-Zupan A, Hunter N, Manthey A, Gibbins J. R-twist gene expression during rat palatogenesis. Int J Dev Biol. 2001;45:397-404.
5. Britto JA, Evans RD, Hayward RD, Jones BM. Toward pathogenesis of Apert cleft palate: FGF, FGFR, and TGFβ genes are differentially expressed in sequential stages of human palatal shelf fusion. Cleft Palate Craniofac J. 2002;39:332-340.
6. Chun K, Teebi AS, Jung JH, Kennedy S, Laframboise R, Meschino WS, Bakabayashi K, Scherer RW, Ray PN, Tesihima I. Genetic analysis of patients with the Saethre-Chotzen phenotype. Am J Med Genet. 2002;110:136-143.
7. Cohen MM Jr, MacLean RE. Craniosynostosis: Diagnosis, Evaluation and Management. 2nd ed. New York: Oxford University Press; 2000.
8. de Heer J, de Klein A, van den Ouweland A, Vermeij-Keers C, Wouters C, Vaandrager JM, Hovius S, Hoogeboom J. Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. Plast Reconstr Surg. 2005;115:1894-1902.
9. de Heer IM, Hoogeboom J, Vermeij-Keers C, de Klein A, Vaandrager JM. Postnatal onset of craniosynostosis in a case of Saethre-Chotzen syndrome. J Craniofac Surg. 2004;15:1048-1052.
10. Dollfus H, Biswas P, Kumaramanickavel G, Stoetzel C, Quillet R, Biswas J, Lajeunie E, Renier D, Perrin-Schmitt F. Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation. Am J Med Genet. 2002;109:218-225.
11. Friedman JM, Hanson JW, Graham CB, Smith DW. Saethre-Chotzen syndrome: a broad and variable pattern of skeletal malformations. J Pediatr. 1977;91:929-1923
12. Gorlin RJ, Cohen MM Jr, Hennekam RCM. Syndromes of the Head and Neck. 4th ed. New York: Oxford University Press; 2001.
13. Greene AK, Proctor MR, Meara JG, Mulliken JB, Rogers GF. Phenotypically unique combined craniosynostosis: presentation and management. Plast Reconstr Surg. In press.
14. Hornick C, Brand-Saberi B, Rudloff S, Christ B, Fuchtbauer E-M. Twist is an integrator of SHH, FGF and BMP signaling. Anat Embr. 2004;209:31-39. (Pubitemid 40064370)
15. Johnson D, Horsley SW, Moloney DM, Oldridge M, Twigg SRF, Walsh S, Barrow M, Njolstad PR, Kunz J, Ashworth GJ, et al. A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. Am J Hum Genet. 1998;63:1282-1293. (Pubitemid 30418526)
16. Kopysc Z, Stanska M, Ryzko J, Kulczyk B. The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes: observations of three cases in one family. Hum Genet. 1980;56:195-204.
17. Kreiborg S, Cohen MM Jr. The oral manifestations of Apert syndrome. J Craniofac Genet Dev Biol. 1992;12:41-48.
18. Kreiborg S, Pruzansky S, Pashayan H. The Saethre Chotzen syndrome. Teratology. 1972;6:287-294.
19. Kress W, Schropp C, Lieb G, Petersen G, Büsse-Ratzka M, Kunz J, Reinhart E, Schäfer W-D, Sold J, Hoppe F, et al. Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. Eur J Hum Genet. 2006;14:39-48.
20. Lee S, Seto M, Sie K, Cunningham M. A child with Saethre-Chotzen syndrome, sensorineural hearing loss and a TWIST mutation. Cleft Palate Craniofac J. 2002;39:110-114. (Pubitemid 34053011)
21. Maw M, Kar B, Biswas J, Biswas P, Nancarrow D, Denton M, Bridges R, Kumaramanickavel G, Badrinath SS. Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p. Hum Mol Genet. 1996;5:2049-2054.
22. Mulliken JB, Gripp KW, Stolle CA, Steinberger D, Muller U. Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis). Plast Reconstr Surg. 2004;113:1899-1909.
23. Niemann-Seyde SC, Eber SW, Zoll B. Saethre-Chotzen syndrome (ACS III) in four generations. Clin Genet. 1991;40:271-276.
24. Paznekas WA, Cunningham ML, Howard TD, Korf BR, Lipson MH, Grix AW, Feingold M, Goldberg R, Borochowitz Z, Aleck K, et al. Genetic heterogeneity of Saethre-Chotzen syndrome due to TWIST and FGFR mutations. Am J Hum Genet. 1998;62:1370-1380. (Pubitemid 28307106)
25. Peterson SJ, Pruzansky S. Palatal anomalies in the syndromes of Apert and Crouzon. Cleft Palate J. 1974;11:394-403.
26. Pungchanchaikul P, Gelbier M, Ferretti P, Bloch-Zupan A. Gene expression during palate fusion in vivo and in vitro. J Dent Res. 2005;84:526-531.
27. Reardon W, McManus SP, Summers D, Winter RM. Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p21.2. Am J Med Genet. 1993;47:633-636.
28. Reid C, McMorrow L, McDonald-McGinn D, Grace K, Ramos F, Zackai E, Cohen MM, Jabs EW. Saethre-Chotzen syndrome with familial translocation at chromosome 7p22. Am J Med Genet. 1993;47:637-639.
29. Schluth-Bolard C, Till M, Labalme A, Rey C, Banquart E, Fautrelle A, Martin-Denavit T, Le Lorc'h M, Romana SP, Lazar V, et al. TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7. Eur J Med Genet. 2008;51(2):156-164.
30. Shishido E, Higashijima S-I, Emori Y, Saigo K. To FGF-receptor homologues of Drosophila: one is expressed in mesodermal primordium in early embryos. Development. 1993;117:751-761.
31. Slaney SF, Oldridge M, Hurst JA, Moriss-Kay GM, Hall CM, Poole MD, Wilkie AO. Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. Am J Hum Genet. 1996;58:923-932.
32. Thompson EM, Baraitser M, Haward RD. Parietal foramina in Saethre- Chotzen syndrome. J Med Genet. 1984;21:369-372.
33. Wharton P, Mowrer DE. Prevalence of cleft uvula among school children in kindergarten through grade five. Cleft Palate Craniofac J. 1992;29:10-12.
34. Wilkie AO, Yang SP, Summers D, Poole MD, Reardon W, Winter RM. Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families. J Med Genet. 1995;32:174-180.