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.