Additional phenotypic features of Muenke syndrome in 2 Dutch families

Journal of Craniofacial Surgery

Volumn 22, Issue 2, 2011, Pages 571-575

  De Jong, Tim ^a   Mathijssen, Irene M J ^a   Hoogeboom, A Jeannette M ^b  

^a SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Craniosynostosis; genotype; Muenke syndrome; phenotype

Indexed keywords

ARGININE; FGFR3 PROTEIN, HUMAN; FIBROBLAST GROWTH FACTOR RECEPTOR 3; PROLINE;

ACROCEPHALOSYNDACTYLY; ARTICLE; CRANIOFACIAL SYNOSTOSIS; FEMALE; GENETICS; HUMAN; MALE; NETHERLANDS; PEDIGREE; PHENOTYPE;

ACROCEPHALOSYNDACTYLIA; ARGININE; CRANIOSYNOSTOSES; FEMALE; HUMANS; MALE; NETHERLANDS; PEDIGREE; PHENOTYPE; PROLINE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3;

EID: 79954424150     PISSN: 10492275     EISSN: None     Source Type: Journal    
DOI: 10.1097/SCS.0b013e318207b761     Document Type: Article

References (21)

1. Glass IA, Chapman S, Hockley AD. A distinct autosomal dominant craniosynostosis-brachydactyly syndrome. Clin Dysmorphol 1994;3:215-223 (Pubitemid 24260176)
2. Bellus GA, Gaudenz K, Zackai EH, et al. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat Genet 1996;14:174-176 (Pubitemid 26338798)
3. Moloney DM, Wall SA, Ashworth GJ, et al. Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis. Lancet 1997;349:1059-1062 (Pubitemid 27158251)
4. Paznekas WA, Cunningham ML, Howard TD, et al. Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. Am J Hum Genet 1998;62:1370-1380 (Pubitemid 28307106)
5. von Gernet S, Schuffenhauer S, Golla A, et al. Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p. Am J Med Genet 1996;63:177-184
6. Ades LC, Mulley JC, Senga IP, et al. Jackson-Weiss syndrome: clinical and radiological findings in a large kindred and exclusion of the gene from 7p21 and 5qter. Am J Med Genet 1994;51:121-130 (Pubitemid 24155225)
7. Hollway GE, Phillips HA, Ades LC, et al. Localization of craniosynostosis Adelaide type to 4p16. Hum Mol Genet 1995;4:681-683
8. Passos-Bueno MR, Wilcox WR, Jabs EW, et al. Clinical spectrum of fibroblast growth factor receptor mutations. Hum Mutat 1999;14:115-125 (Pubitemid 29372778)
9. Muenke M, Gripp KW, McDonald-McGinn DM, et al. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet 1997;60:555-564 (Pubitemid 27097603)
10. Doherty ES, Lacbawan F, Hadley DW, et al. Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. Am J Med Genet A 2007;143A:3204-3215 (Pubitemid 350274837)
11. Kress W, Schropp C, Lieb G, 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 (Pubitemid 43019082)
12. Golla A, Lichmer P, von Gernet S, et al. Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family. J Med Genet 1997;34:683-684 (Pubitemid 27356890)
13. van der Meulen J, van den Ouweland A, Hoogeboom J. Trigonocephaly in Muenke syndrome. Am J Med Genet A 2006;140:2493-2494 (Pubitemid 44684947)
14. Graham JM Jr, Braddock SR, Mortier GR. Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. Am J Med Genet 1998;77:322-329 (Pubitemid 28208727)
15. Gripp KW, Stolle CA, McDonald-McGinn DM, et al. Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III. Am J Med Genet 1998;78:356-360 (Pubitemid 28364406)
16. Reardon W, Wilkes D, Rutland P, et al. Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. J Med Genet 1997;34:632-636 (Pubitemid 27356879)
17. Robin NH, Scott JA, Cohen AR, et al. Nonpenetrance in FGFR3-associated coronal synostosis syndrome. Am J Med Genet 1998;80:296-297 (Pubitemid 28533549)
18. de Jong T, Bannink N, Bredero-Boelhouwer HH, et al. Long-term functional outcome in 167 patients with syndromic craniosynostosis; defining a syndrome-specific risk profile. J Plast Reconstr Aesthet Surg 2010;63:1635-1641
19. Honnebier MB, Cabiling DS, Hetlinger M, et al. The natural history of patients treated for FGFR3-associated (Muenke-type) craniosynostosis. Plast Reconstr Surg 2008;121:919-931 (Pubitemid 351642826)
20. Trusen A, Beissert M, Collmann H, et al. The pattern of skeletal anomalies in the cervical spine, hands and feet in patients with Saethre-Chotzen syndrome and Muenke-type mutation. Pediatr Radiol 2003;33:168-172 (Pubitemid 36700918)
21. Marchac D, Renier D, Arnaud E. Evaluation of the effect of early mobilization of the supraorbital bar on the frontal sinus and frontal growth. Plast Reconstr Surg 1995;95:802-811