Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and Sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene

R. Brian Lowry, Ethylin Wang Jabs, Gail E. Graham, Jennifer Gerritsen, John Fleming

Research output: Contribution to journalArticlepeer-review

Abstract

A unique Pro250Arg point mutation in fibroblast growth factor receptor 3 (FGFR3) was initially reported by Bellus et al. [1996: Nat Genet 14:174-176] and the phenotype subsequently by Muenke et al. [1997: Am J Hum Genet 60:555-564], Reardon et al. [1997: J Med Genet 34:632-636], and Graham et al. [1998: Am J Med Genet 77:322-329]. These authors emphasized the pleiotropic nature of this form of coronal craniosynostosis, including brachydactyly with carpal and/or tarsal coalitions, with other anomalies at lower frequency. We report on a family with autosomal dominant coronal synostosis, segmentation and fusion anomalies of the vertebra and ribs, and Sprengel shoulder due to the Pro250Arg mutation. We also report a single case with an identical phenotype without the mutation.

Original languageEnglish (US)
Pages (from-to)112-119
Number of pages8
JournalAmerican Journal of Medical Genetics
Volume104
Issue number2
DOIs
StatePublished - Nov 22 2001

Keywords

  • Brachydactyly
  • Carpal/tarsal coalition
  • Coronal craniosynostosis
  • Deafness
  • Fibroblast growth factor receptor 3 (FGFR3)
  • Klippel-Feil anomaly
  • Sprengel shoulder

ASJC Scopus subject areas

  • Genetics(clinical)

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