Table 1 Diagnostic criteria for NBCCS and clinical phenotype of 15 Korean patients.
Diagnostic criteria for NBCCS | N (%) |
|---|---|
Major criteria | |
1. More than two BCCs or one under the age of 20 years | 14 (93.3) |
2. Odontogenic keratocysts of the jaw | 9 (60.0) |
3. Three or more palmar or plantar pits | 14 (93.3) |
4. Lamellar calcification of the falx cerebri | 9 (60.0) |
5. Bifid, fused or markedly splayed ribs | 5 (33.3) |
6. First degree relative with NBCCS | 6 (40.0) |
Minor criteria | |
1. Macrocephaly determined after adjustment for height | 10 (66.7) |
2. Congenital malformations | 7 (46.7) |
3. Other skeletal abnormalities | 3 (20.0) |
4. Radiological abnormalities | 1 (6.7) |
5. Ovarian fibroma | 1 (6.7) |
6. Medulloblastoma | 3 (20.0) |
Total | 15 (100.0) |
