Table 3

Comparison of the present study with previously published results showing severity of the phenotype in familial (A) and sporadic (B) cases according to the sex of the carrier of the P250R FGFR3 mutation

Total offspringP250R carriersGroup 1Group 2
BrachycephalyPlagiocephalyNo craniosynostosis
MFMFMFMFMF
A Familial forms
 This study192717196136452
 Previous studies21211316915311
 Total4048303515289463
B Sporadic forms
 This study33132
 Previous studies26251
 Total59382100
  • Data from the present study and previous studies6−8 10 were combined, taking into account the fact that one familial form and six sporadic cases from ref 7 were included in ref 6. M = males, F = females.