Table 5.
Congenital Physical Abnormality in DBA Patients with RPL5, RPL11, and RPS19 Mutations
| Patients with Mutationsa | Patients with Malformations | Cleft Lip and/or Palateb | Thumb Abnormalityb | Heart Abnormalityb | Other Abnormalities, Including Short Statureb | Multiple Malformations | |
|---|---|---|---|---|---|---|---|
| RPL5 | 20 | 14 | 9c | 8 | 5 | 13 | 11 |
| RPL11 | 18 | 12 | 0 | 8 | 3 | 4 | 3 |
| RPS19d | 76 | 35 | 0 | 7 | 4 | 47 | 16 |
a
Total number of patients whose medical data are available.
b
Isolated or in association with other abnormalities.
c
Including two patients with soft cleft palate.
d
Based on 6,10,12,32.