Table 1.
Patient characteristics.
| Patients characteristics | No. (%) girls | No. (%) boys |
|---|---|---|
| No. patients | 37 | 33 |
| Term (WA) | ||
| Mean (±SD) | 40 (2) | 40 (2) |
| Median | 41 | 40 |
| Minimum | 34 | 37 |
| Maximum | 43 | 42 |
| Target size (cm) | ||
| Mean (±SD) | 161 (4) | 179 (5) |
| Median | 162 | 180 |
| Minimum | 154 | 169 |
| Maximum | 167 | 188 |
| Syndrome | ||
| Crouzon | 12 (33%) | 20 (61%) |
| Pfeiffer | 9 (24%) | 6 (18%) |
| Apert | 7 (19%) | 4 (12%) |
| Muenke | 9 (24%) | 3 (9%) |
| Mutation | ||
| FGFR2 | 21 (57%) | 19 (58%) |
| Ala391Glu | 0 | 1 |
| Ala337Pro | 0 | 1 |
| Asn549Ser | 0 | 1 |
| Cys278Phe | 1 | 0 |
| Cys342Arg | 3 | 3 |
| Cys342Ser | 2 | 3 |
| Cys342Trp | 3 | 0 |
| Cys342Tyr | 1 | 2 |
| Gln289Pro | 1 | 0 |
| Ile288Asn | 1 | 0 |
| Phe276Val | 1 | 1 |
| Pro253Arg | 1 | 1 |
| Ser282Cys | 1 | 0 |
| Ser354Cys | 0 | 3 |
| Ser267Pro | 1 | 0 |
| Ser252Trp | 4 | 1 |
| Thr341Pro | 0 | 1 |
| Trp290Arg | 0 | 1 |
| Tyr340His | 1 | 0 |
| FGFR3 | 10 (29%) | 4 (12%) |
| Ala391Glu | 1 | 1 |
| Pro250Arg | 9 | 3 |
| Hormonal treatment | 2 (6%) | 2 (6%) |
| Follow-up (years) | ||
| Mean (±SD) | 17 (10) | 17 (7) |
| Median | 15 | 16.5 |
| Minimum | 3 | 5 |
| Maximum | 55 | 31 |
| Birth height (cm) | ||
| Mean (±SD) | 50.8 (2.1) | 48.9 (1.8) |
| Median | 51 | 48 |
| Minimum | 47 | 47 |
| Maximum | 54 | 53 |
| Birth weight (kg) | ||
| Mean (±SD) | 3.5 (0.6) | 3.3 (0.5) |
| Median | 3.6 | 3.2 |
| Minimum | 1.9 | 2.2 |
| Maximum | 4.2 | 4.4 |
| Birth BMI (kg/m2) | ||
| Mean (±SD) | 13.8 (1.1) | 13.1 (1.5) |
| Median | 13.9 | 13.6 |
| Minimum | 12.1 | 10.0 |
| Maximum | 15.5 | 15.2 |
| Birth head circumference (cm) | ||
| Mean (±SD) | 35.9 (1.4) | 34.3 (1.3) |
| Median | 35.8 | 34.0 |
| Minimum | 34 | 32 |
| Maximum | 39 | 36 |