Table 1.
Clinical Features of Patients with OFD1 Who Were Included in the Study
|
Anomalies |
||||||
| Family(Casea) | Oral | Facialb | Hand/Foot | Cerebral | Kidney | Miscellaneousb |
| 1 (F) | Hamartomas, dental anomalies, cleft tongue, highly arched palate | Skin milia, dolichocephaly, down-slanting palpebral fissures | … | Suprasellar expansive lesion, mild mental retardation | … | Alopecia, coarse hair |
| 3 (F) | Cleft palate, frenula, lingual hamartomas | Alar hypoplasia | Polydactyly, short second right toe | Cysts of cerebral hemisphere | Polycystic | … |
| 4 (F) | Cleft palate/upper lip | Facial asymmetry | Clinodactyly, syndactyly | Moderate mental retardation, mild cerebral atrophy | Polycystic | Alopecia, dry hair, liver/pancreatic cysts |
| 6 (S) | Frenula, cleft gums, lingual hamartomas | Skin milia | Syndactyly | … | … | … |
| 10 (S) | Cleft lip/palate | NA | Syndactyly | … | … | NA |
| 27 (S) | Cleft palate, dental anomalies, tongue-tied | Skin milia | … | Learning difficulties | Polycystic | … |
| 28 (S) | Cleft palate/upper lip, dental anomalies | Skin milia | Brachydactyly, clinodactyly | Learning difficulties | … | Patchy alopecia |
a
F = familial; S = sporadic.
b
NA = not available.