Trigonocephaly in Muenke syndrome

American Journal of Medical Genetics, Part A

Volumn 140, Issue 22, 2006, Pages 2493-2494

  Van Der Meulen, Jacques ^a   Van Den Ouweland, Ans ^a   Hoogeboom, Jeannette ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Craniosynostosis; FGFR3 Pro250Arg mutation; Metopic synostosis; Muenke syndrome; New phenotype; Saethre Chotzen syndrome; Trigonocephaly

Indexed keywords

ARGININE; FIBROBLAST GROWTH FACTOR RECEPTOR 1; FIBROBLAST GROWTH FACTOR RECEPTOR 2; FIBROBLAST GROWTH FACTOR RECEPTOR 3; PROLINE;

ACROCEPHALOSYNDACTYLY; ARTICLE; BRAIN MALFORMATION; CASE REPORT; CHILD; CHROMOSOME 4P; CHROMOSOME 7P; CLINICAL EXAMINATION; CRANIOFACIAL SYNOSTOSIS; GENE MUTATION; HUMAN; MUENKE SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SYNDROME; TRIGONOCEPHALY;

AMINO ACID SUBSTITUTION; CRANIOSYNOSTOSES; HUMANS; IMAGING, THREE-DIMENSIONAL; INFANT; MALE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; SKULL; SYNDROME; TOMOGRAPHY, X-RAY COMPUTED;

EID: 33750599494     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31460     Document Type: Article

References (13)

1. Anderson PJ, Hall CM, Evans RD, Hayward RD, Jones BM. 1996. The hands in Saethre-Chotzen syndrome. J Craniofac Genet Dev Biol 16:228-233.
2. Brueton LA, van Herwerden L, Chotai KA, Winter RM. 1992. The mapping of a gene for craniosynostosis: Evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p. J Med Genet 29:681-685.
3. Chotzen F. 1933. Eine eigenartige familiäre entwicklungsstö rung. (Akrocephalosyndactylie, dysostosis craniofacialis und hypertelorismus). Monatsschr Kinderheilk 55:97-122.
4. Cristofori G, Filippi G. 1992. Saethre-Chotzen syndrome with trigonocephaly. Am J Med Genet 44:611-614.
5. de Heer IM, de Klein A, van den Ouweland AM, Vermeij-Keers C, Wouters CH, Vaandrager JM, Hovius SE, Hoogeboom JM. 2005. Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. Plast Reconstr Surg 115:1894-1902; Discussion 1903-1905.
6. El Ghouzzi V, Lajeunie E, Le Merrer M, Cormier-Daire V, Renier D, Munnich A, Bonaventure J. 1999. Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome. Eur J Hum Genet 7:27-33.
7. Kress W, Petersen B, Collmann H, Grimm T. 2000. An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly. Cytogenet Cell Genet 91:138-140.
8. Muenke M, Gripp KW, McDonald-McGinn DM. 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.
9. Pantke OA, Cohen MM Jr, Witkop CJ Jr, Feingold M, Schaumann B, Pantke HC, Gorlin RJ. 1975. The Saethre-Chotzen syndrome. Birth Defects Orig Artic Ser 11:190-225.
10. Reardon W, McManus SP, Summers D, Winter RM. 1993. Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p21.2. Am J Med Genet 47:633-636.
11. Rose CS, King AA, Summers D, Palmer R, Yang S, Wilkie AO, Reardon W, Malcolm S, Winter RM. 1994. Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2. Hum Mol Genet 3:1405-1408.
12. Saethre H. 1931. Ein beitrag zum Turmschädelproblem (pathogenese, erblichkeit und symptomatologie). Dtsch Z Nervenheilk 117:533-555.
13. Tartaglia M, Bordoni V, Velardi F, Basile RT, Saulle E, Tenconi R, Di Rocco C, Battaglia PA. 1999. Fibroblast growth factor receptor mutational screening in newborns affected by metopic synostosis. Childs Nerv Syst 15:389-393.