Table 1.
Clinical Features of the Patients Studied in This Report
| 1II:4 | 1III:6 | 2II:4 | 2III:5 | 3I:2 | 3II:4 | 3 II:5 | Patient 1 | Patient 2 | Patient 3 | |
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | ||||||||||
| Dutch | Dutch | Italian | Italian | Israeli Arab | Israeli Arab | Israeli Arab | Japanese | Argentinian | Dutch | |
| Age at Onset | ||||||||||
| 1 mo | 3 mo | 7 mo | 2 mo | birth | 3 mo | 4 mo | ||||
| Pigmentary Skin Anomalies | ||||||||||
| Face | + | + | − | + | + | + | + | + | ||
| Scalp | − | − | + | − | ||||||
| Fibromatosis | ||||||||||
| Digital fibromas | + | + | − | + | + | + | + | + | + | + |
| Limbs and Skeletal System | ||||||||||
| Synadactyly | − | − | − | + | + | + | − | − | − | |
| Brachydactyly | + | − | + | + | + | + | ||||
| Clinodactyly | − | + | + | + | + | |||||
| Camptodactyly | + | + | ||||||||
| Metacarpal disorganization | + | + | − | + | + | + | + | |||
| Metatarsal disorganization | + | + | − | + | + | + | + | + | ||
| Limb long bones anomalies | − | + | − | + | − | + | + | + | + | + |
| Articular abnormalities | + | + | − | + | + | + | + | |||
| Facial Features | ||||||||||
| Cleft palate | − | − | − | − | − | + | − | − | ||
| Upslanting palpebral fissures | − | − | + | + | ||||||
| Hypertelorism/Telecanthus | + | − | − | + | + | + | ||||
| Epicanthic folds | − | − | + | + | + | |||||
| Coloboma of Iris | − | + | − | − | − | − | − | |||
| Flat/depressed nasal tip | − | + | − | − | + | − | ||||
| Thick lips/Prominent | + | − | + | |||||||
| Lower Lip | ||||||||||
| Papillomata | − | − | − | − | ||||||
| Multiple frenula | + | + | − | |||||||
| Preauricular pits and tags | + | − | ||||||||