Table 1.
Major clinical and radiological features of the surviving CD patients compared with the present report
| Main features | Present case | Review of published reports (%) |
|---|---|---|
| General features | ||
| Mental retardation | + | 16/19 (84) |
| Short stature, short limbs | + | 19/21 (90) |
| Facial features | ||
| Flat face | + | 17/21 (81) |
| Macrocephaly | + | 20/20 (100) |
| Depressed nasal bridge | + | 19/25 (76) |
| Hypertelorism | − | 6/15 (40) |
| Low-set ears | − | 7/17(41) |
| Long philtrum | + | 7/13 (54) |
| High/cleft palate | − | 20/28 (71) |
| Micrognathia | + | 20/27 (74) |
| Bone malformations | ||
| Spinal dysraphism | − | 13/19 (68) |
| Hypoplastic scapula | + | 16/21 (76) |
| Defective ischiopubic ossification | + | 12/19 (63) |
| Bowing of the bones | − | 12/22 (55) |
| Dislocation of radial head/hip | + | 5/17 (29) |
| Hypoplastic patellae | − | 3/15 (20) |
| Others | ||
| Apnea | − | 12/26 (46) |
| Infections | − | 15/22 (68) |
| Scoliosis | − | 17/20 (85) |
| Hearing defect | + | 7/14 (50) |