Table 3.
Facial features in duplication 17p13.3 patients
| Pt# | Age | OFC | Dysmorphic facial features | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| (centile) | Gestalt | Hypo-tonic | Long | Malar hypo | Prom jaw | Pointed chin | Small mouth | Other | ||
| Group 1 | ||||||||||
| 2 | 4y | 50 | − | +/− | − | − | + | + | − | |
| 3a1 | 4y | NL | − | + | +/− | − | + | + | − | CLP, hypertelorism |
| 4a1 | 8y | <5 | − | − | − | + | − | − | − | |
| 5a1 | 3y | NA | − | − | − | − | − | + | + | CLP |
| 5a2 | adult | NA | + | − | + | + | + | + | + | CLP |
| 6 | 14mo | NA | − | − | −, rd | − | − | − | − | Blepharophimosis, CP |
| 7a1 | 27y | <3 | ± | − | + | − | + | + | + | Midface hypoplasia |
| 8a1 | 4y | 75–90 | ± | + | + | − | +/− | + | + | |
| Group 2 | ||||||||||
| 9 | 12mo | −1.5 SD | + | + | −, rd | − | + | + | + | Short nose |
| 10 | 13mo | NA | + | + | + | − | + | + | + | |
| 11a2 | 24y | NA | ++ | ? | + | − | + | + | − | |
| 12 | 28y | 50–75 | ++ | + | + | − | + | + | + | |
| 13a1 | 13mo | 25 | + | + | + | − | + | + | + | |
| 13a2 | adult | NA | ++ | NA | + | − | − | + | + | |
| 14 | 6y | 25–50 | + | + | + | − | − | + | + | Midface hypoplasia |
| 15 | 14y | 25–50 | ++ | NA | + | − | + | + | + | |
| 16 | 2y | NA | − | + | −, rd | − | − | + | − | Short nose; smooth philtrum |
| Group 3 | ||||||||||
| 18 | 15y | <3 | − | + | + | + | − | − | − | |
| 19 | 5.5y | 50 | − | − | − | + | − | − | − | |
| 20a1 | 3.9y | 50 | ± | + | + | + | − | + | + | |
| 20a2 | 18mo | 10 | ± | + | + | + | − | + | + | |
| 21a2 | 27y | NA | + | − | + | − | + | + | + | |
Abbreviations: CLP, cleft lip and palate; CP, cleft palate; hypo, hypoplasia; mo, months; NA, not available; prom, prominent; rd, round; SD, standard deviations; y, years.