Muenke is a fibroblast growth factor receptor 3 (FGFR-3)-associated syndrome, 
which was first described in late 1990 s. Muenke syndrome is an autosomal 
dominant disorder characterized mainly by coronal suture craniosynostosis, 
hearing impairment and intellectual disability. The syndrome is defined 
molecularly by a unique point mutation c.749C > G in exon 7 of the FGFR3 gene 
which results to an amino acid substitution p.Pro250Arg of the protein product. 
Despite the fact that the mutation rate at this nucleotide is one of the most 
frequently described in human genome, few Muenke familial case reports are 
published in current literature. We describe individuals among three generations 
of a Greek family who are carriers of the same mutation. Medical record and 
physical examination of family members present a wide spectrum of clinical 
manifestations. In particular, a 38-year-old woman and her father appear milder 
clinical findings regarding craniofacial characteristics compared to her uncle 
and newborn female child. This familial case illustrates the variable 
expressivity of Muenke syndrome in association with an identical gene mutation.