Muenke syndrome with osteochondroma

American Journal of Medical Genetics, Part A

Volumn 149, Issue 2, 2009, Pages 260-261

  Barbosa, Mafalda ^a,c   Almeida, Maria Do Rosário ^b   Reis Lima, Margarida ^a   Pinto Basto, Jorge ^a   Dos Santos, Heloísa Gonçalves ^b  

^a NATIONAL INSTITUTE OF HEALTH   (Portugal)

^b Genomed   (Portugal)

^c Centro de Genética Médica Jacinto de Magalhães   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 3;

CLINICAL FEATURE; CRANIOFACIAL SYNOSTOSIS; DISEASE ASSOCIATION; HUMAN; LETTER; MUENKE SYNDROME; MUTATIONAL ANALYSIS; OSTEOCHONDROMA; PATHOGENESIS; PRIORITY JOURNAL;

EID: 59849109151     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32616     Document Type: Letter

References (13)

1. Bellus GA, Gaudenz K, Zackai EH, Clarke LA, Szabo J, Francomano CA, Muenke M. 1996. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat Genet 14:174-176.
2. Cohen MM Jr. 2004. FGFs/FGFRs and associated disorders. In: Epstein CJ, Erickson RP, Wynshaw-Borris A, editors. From inborn errors of development. New York: Oxford University Press. Chapter 33, pp. 380-400.
3. Cohen MM Jr. 2006. The new bone biology: Pathologic, molecular, and clinical correlates. Am J Med Genet 140A:2646-2706.
4. Cohen MM Jr, MacLean RE. 2000. Craniosynostosis: Diagnosis, evaluation, and management. 2nd edition. New York: Oxford University Press.
5. Doherty ES, Lacbawan F, Hadley D, Brewer C, Zalewski C, Kim HJ, Solomon B, Rosenbaum K, Domingo DL, Hart TC, Brooks BP, Immken L, Lowry RB, Kimonis V, Shanske AL, Jehee FS, Passos Bueno MR, Knightly C, McDonald-McGinn D, Zackai EH, Muenke M. 2007. Muenke syndrome (FGFR3-related craniosynostosis): Expansion of the phenotype and review of the literature. Am J Med Genet Part A 143A:3204-3215.
6. Graham JM, Braddock SR, Mortier GR, Lachman R, Van Dop C, Jabs EW. 1998. Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. Am J Med Genet 77:322-329.
7. Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Glat PM, Cassileth LB, Mayro R, Zackai EH, Muenke M. 1998. Identification of the first genetic cause for isolated unilateral coronal synostosis: A unique mutation in the fibroblast growth factor receptor 3 (FGFR3). J Pediatr 132:714-716.
8. Lajeunie E, El Ghouzzi V, Le Merrer M, Munnich A, Bonaventure J, Renier D. 1999. Sex related expressivity of the phenotype in coronal synostosis caused by the recurrent P250R FGFR3 mutation. J Med Genet 36:9-13.
9. Moloney DM, Wall SA, Ashworth GJ, Oldridge M, Francomano CA, Muenke M, Wilkie AOM. 1997. Prevalence of Pro250Arg mutation in fibroblast factor receptor 3 in coronal craniosynostosis. Lancet 349:1059-1062.
10. Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, Robin NH, Nwokoro N, Mulvihill JJ, Losken HW, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA, Hollway G, Ades LC, Haan EA, Mulley JC, Cohen MM Jr, Bellus GA, Francomano CA, Moloney DM, Wall SA, Wilkie AOM, Zackai EH. 1997. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet 60:555-564.
11. Reardon W, Wilkes D, Rutland P, Pulleyn LJ, Malcolm S, Dean JCS, Evans RD, Jones BM, Hayward R, Hall CM, Nevin NC, Baraitser M, Winter RM. 1997. Craniosynostosis associated with FGFR3 Pro250Arg mutation results in a range of clinical presentations including unilateral sporadic craniosynostosis. J Med Genet 34:632-636.
12. Robin RH, Scott JA, Cohen AR, Goldstein JA. 1998. Letter to the editor: Nonpenetrance in FGFR3-associated coronal synostosis syndrome. Am J Med Genet 80:296-297.
13. Wilkie AOM. 1997. Craniosynostosis: Genes and mechanisms. Hum Mol Genet 6:1647-1656.