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 offspring | P250R carriers | Group 1 | Group 2 | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Brachycephaly | Plagiocephaly | No craniosynostosis | |||||||||||||||||
| M | F | M | F | M | F | M | F | M | F | ||||||||||
| A Familial forms | |||||||||||||||||||
| This study | 19 | 27 | 17 | 19 | 6 | 13 | 6 | 4 | 5 | 2 | |||||||||
| Previous studies | 21 | 21 | 13 | 16 | 9 | 15 | 3 | — | 1 | 1 | |||||||||
| Total | 40 | 48 | 30 | 35 | 15 | 28 | 9 | 4 | 6 | 3 | |||||||||
| B Sporadic forms | |||||||||||||||||||
| This study | 3 | 3 | 1 | 3 | 2 | — | — | — | |||||||||||
| Previous studies | 2 | 6 | 2 | 5 | — | 1 | — | — | |||||||||||
| Total | 5 | 9 | 3 | 8 | 2 | 1 | 0 | 0 | |||||||||||
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.