Phenotypic variability in two families of Muenke syndrome with FGFR3 mutation

Abstract

Muenke syndrome is a nonsyndromic coronal craniosynostosis, characterised by clinical and radiological variability, with occurrence of both familial and sporadic cases. Pro250Arg (P250R) is a pathogenic mutation, causing this highly clinically heterogeneous syndrome reported worldwide irrespective of race and ethnicity. The authors describe three Indian cases in two different families showing phenotypic spectrum of the disease, which was later confirmed by genetic testing.