The Muenke syndrome (MS) is characterized by unicoronal or bicoronal 
craniosynostosis, midfacial hypoplasia, ocular hypertelorism, and a variety of 
minor abnormalities associated with a mutation in the fibroblast growth factor 
receptor 3 (FGFR3) gene. The birth prevalence is approximately one in 10,000 
live births, accounting for 8-10% of patients with coronal synostosis. Although 
MS is a relatively common diagnosis in patients with craniosynostosis syndromes, 
with autosomal dominant inheritance, there has been no report of MS, in an 
affected Korean family with typical cephalo-facial morphology that has been 
confirmed by molecular studies. Here, we report a familial case of MS in a 
female patient with a Pro250Arg mutation in exon 7 (IgII-IGIII linker domain) of 
the FGFR3 gene. This patient had mild midfacial hypoplasia, hypertelorism, 
downslanting palpebral fissures, a beak shaped nose, plagio-brachycephaly, and 
mild neurodevelopmental delay. The same mutation was confirmed in the patient's 
mother, two of the mother's sisters and the maternal grandfather. The severity 
of the cephalo-facial anomalies was variable among these family members.