Table 1.
Comparison of clinical features of previously published and our patients with restrictive dermopathy and mandibuloacral dysplasia due to ZMPSTE24 mutations.
| Finding | Previously reported RD cases (n=25) (1–7, 9–11) | Our cases | ZMPSTE24 MAD cases (n=8) (13–18) | ||
|---|---|---|---|---|---|
| RD 600.3 | RD 500.3 | RD 200.3 | |||
| IUGR | 12/14 (86%) | + | + | NA | 0 |
| Birth weiqht: Normal: Low (<2500 g) : Very low(<1500 g): Extremely low (<1000 g) | 0:0:7:0 (7) | 1615 g | 1192 g | 750 g | 2:2:0:0 (4) |
| Birth at ≤ 33 weeks gestation | 16/17 (94%) | − | + | + | 1/5 (20%) |
| Tight, thin, translucent, or shiny skin | 20/20 (100%) | + | + | + | 6/6 (100%) |
| Skin erosions | 19/19 (100%) | + | + | + | 0 |
| Micrognathia | 17/17 (100%) | + | + | NA | 6/6 (100%) |
| Small pinched nose | 7/7 (100%) | + | + | NA | 4/4 (100%) |
| Mouth in the o position | 19/19 (100%) | + | + | NA | 0 |
| Sparse or absent hair, eyelashes or eyebrows | 4/4 (100%) | NA | + | + | 3/3 (100%) |
| Low-set dysplastic ears | 6/6 (100%) | + | − | NA | 0 |
| Enlarged fontanelles | 7/7 (100) | + | + | NA | 4/4 (100%) |
| Contractures and rigid posture | 20/20 (100%) | + | + | + | 5/5 (100%) |
| Prominent superficial vasculature | 6/6 (100%) | + | + | + | 2/2 (100%) |
| Dysplastic / hypoplastic clavicles | 4/4 (100) | + | + | NA | 5/5 (100%) |
| Bulbous appearance of distal clavicle | 0 | NA | + | NA | 0 |
| Butterfly vertebrae | 0/1 (0) | NA | + | NA | 0 |
| Death in neonatal period | 14/16 (88%) | + | + | + | 0 |
| Partial lipodystrophy | NA | NA | NA | NA | 5/5 (100%) |
NA: information not available, IUGR, intrauterine growth retardation