Clinical features of the patients with OFD1
| I.3 | I.2 | IV | III | II.3 | II.2 | II.1 | |
|---|---|---|---|---|---|---|---|
| NA=not yet available, ND=not done. | |||||||
| Age (years) | 1.5 | 23 | 0.5 | 30 | 19 | 25 | 50 |
| Clinical findings | |||||||
| Facial | |||||||
| Midfacial flattening | + | + | + | + | − | − | + |
| Alar hypoplasia | + | + | + | + | + | + | + |
| Dystopia canthorum | + | + | + | − | + | − | + |
| Skin milia | + | − | + | − | − | − | − |
| Oral | |||||||
| Thin upper lip | + | + | + | + | + | + | + |
| Cleft palate | + | + | − | − | − | − | − |
| Midline pseudocleft of upper lip | − | − | − | − | + | + | + |
| Alveolar notching | + | + | + | + | − | + | + |
| Tooth aplasia | NA | + | NA | + | + | + | + |
| Lobulated tongue | + | + | + | + | + | + | + |
| Tongue hamartoma | + | + | + | − | + | + | − |
| Multiple frenula | + | + | + | + | − | + | − |
| Cerebral | |||||||
| Mental retardation | − | − | − | − | + | + | − |
| Renal | |||||||
| Polycystic kidneys | ND | + | ND | + | ND | ND | ND |
| Extremities | + | + | + | + | + | + | + |