Recently, a unique Pro250Arg point mutation in fibroblast growth factor receptor 
3 (FGFR3) was reported in 61 individuals with coronal craniosynostosis from 20 
unrelated families [Muenke et al. (1997): Am J Hum Genet 60:555-564]. The 
discovery of this apparently common mutation has resulted in the definition of a 
recognizable syndrome, through analysis of subtle clinical findings in families 
who were previously thought to have a variety of other craniosynostosis 
syndromes. Previous diagnoses in some of these families have included 
Jackson-Weiss, Saethre-Chotzen, and Pfeiffer syndromes, as well as Adelaide-type 
craniosynostosis and brachydactyly-craniosynostosis syndrome [Adès et al. 
(1994): Am J Med Genet 51:121-130; von Gernet et al. (1996): Am J Med Genet 
63:177-184; Reardon et al. (1997): J Med Genet 34:632-636; Bellus et al. (1996): 
Nat Genet 14:174-176; Hollaway et al. (1995): Hum Mol Genet 4:681-683; Glass et 
al. (1994): Clin Dysmorphol 3:215-223]. There appears to be a need to further 
delineate the phenotype associated with this common mutation in FGFR3. We 
compare the clinical characteristics of previously reported cases of this unique 
Pro250Arg mutation with those of two additional families and suggest that this 
syndrome with a unique mutational basis be designated coronal craniosynostosis 
with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in 
FGFR3 gene, to emphasize the distinctive findings which may be present even in 
the absence of coronal craniosynostosis.