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

A unique Pro250Arg point mutation in fibroblast growth factor receptor 3 (F GFR3) 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 60:55 5-564], Reardon et al. [1997: J Med Genet 34:632-636], and Graham et al. [1 998: Am J Med Genet 77:322-329]. These authors emphasized the pleiotropic n ature of this form of coronal craniosynostosis, including brachydactyly wit h carpal and/ or tarsal coalitions, with other anomalies at lower frequency . We report on a family with autosomal dominant coronal synostosis, segment ation and fusion anomalies of the vertebra and ribs, and Sprengel shoulder due to the Pro250Arg mutation. We also report a single case with an identic al phenotype without the mutation. (C) 2001 Wiley-Liss, Inc.