Dysmorphic features of appearance at the time of diagnosis in 85 patients with Mulibrey nanism
| Feature | Frequency(%) |
|---|---|
| Head | |
| Characteristic face: triangular face, high and broad forehead; low nasal bridge and telecanthus | 90 |
| Scaphocephaly | 81 |
| Hypoplastic tongue | 80 |
| Low set located posteriorly rotated ears | 54 |
| Dental crowding | 50 |
| High hairline | 45 |
| Wide fontanelles and sutures in infancy | 37 |
| Abnormally wide metopic suture | 31 |
| Cleft palate | 2 |
| Body | |
| Thin extremities | 99 |
| Accentuated lumbar lordosis | 96 |
| General gracility | 95 |
| Narrow shoulders | 94 |
| Small bell shaped thoracic cage | 94 |
| Barrell-like trunk | 92 |
| Cutaneus naevi flammei | 65 |
| Hypoplastic buttocks | 52 |
| Constitution | |
| Relative proximal shortness of limbs | 90 |
| Large head relative to stature | 81 |
| Large hands and feet relative to stature | 67 |
| Skeletal asymmetry | 15 |