Recently, the substitution of proline 250 by arginine in the fibroblast growth 
factor receptor 3 (FGFR3) gene, has been identified in patients with 
craniosynostosis and defines a new syndrome on a molecular basis. We report a 
1-year-1-month-old female with bilateral coronal craniosynostosis who had the 
P250R mutation in FGFR3 gene detected by DNA sequencing. She had brachycephaly, 
temporal bossing, high and flat forehead, hypertelorism, mild proptosis, low set 
ears and no digital abnormalities. She underwent surgical repair at 7 months and 
her cosmetic problems were improved. Her development was normal up to 13 months 
of age. DNA analysis from her parents showed that her father had the same 
mutation. The phenotypes of the P250R mutation in the FGFR3 syndrome are 
variable even within the same family, but main characteristic clinical features 
are follows, 1) lateral or bilateral coronal craniosynostosis, 2) mild hand and 
foot anomalies, and 3) sensory deafness. In FGFR3 syndrome the diagnosis of 
P250R mutation by polymerase chain reaction (PCR) is very easy and important for 
early diagnosis and genetic counseling.