Table 1. Patients and unaffected family members.
Family ID | Individual No. | Patient / Unaffected member | Age | Gender | Symptoms agree with Kimonis criteria | Other symptoms | JOPM* No. | JOPM* Family ID | PLOS** No. | PLOS** Family ID |
---|---|---|---|---|---|---|---|---|---|---|
A | 1 | Patient | 13 | F | KCOT, Rib anomaly, Skin pits, Thoracic deformity | - | 9 | 8 | 26 | 3 |
2 | Patient | 10 | F | KCOT, Rib anomaly, Skin pits, Ovarian fibroma | Ovarian cyst | 10 | 8 | 25 | 3 | |
3 | Patient | 35 | F | BCC, KCOT, Rib anomaly, Skin pits, Calcification of the falx cerebri | Multiple nevi | 11 | 8 | 27 | 3 | |
4 | Unaffected | - | F | 8 | 3 | |||||
B | 5 | Patient | 10 | F | KCOT, Rib anomaly, Skin pits, Vertebrate anomaly, | Dermoid cyst (skin), Glioma, Mandibular protrusion, Hydrocephalus, Psychomotor retardation, Macrocephaly | 2 | 2 | ||
6 | Unaffected | - | F | 2 | ||||||
C | 7 | Patient | 65 | M | BCC, KCOT, Skin pits | Multiple nevi, Epilepsy | 15 | 10 | 36 | - |
D | 8 | Patient | 15 | M | KCOT, Rib anomaly, Skin pits, Calcification of the falx cerebri | Multiple nevi, Mandibular protrusion | 6 | 6 | ||
9 | Unaffected | - | F | 6 | ||||||
E | 10 | Patient | 10 | F | KCOT, Rib anomaly, Skin pits, Calcification of the falx cerebri | Language development disorder, Ventricular distention | 18 | 12 | 23 | 2 |
11 | Patient | 13 | F | KCOT, Skin pits, Calcification of the falx cerebri | Unknown | 19 | 12 | 24 | 2 | |
12 | Unaffected | - | M | 12 | 2 | |||||
F | 13 | Patient | 13 | F | KCOT, Rib anomaly, Ocular hypertelorism | Multiple nevi, Mental retardation, Agenesis of corpus callosum, Prolonged retention of deciduous tooth | 12 | 9 | ||
14 | Patient | 12 | F | KCOT, Thoracic deformity | Multiple nevi, Prolonged retention of deciduous tooth | 13 | 9 | |||
15 | Unaffected | - | F | 9 |
KCOT, keratocystic odontogenic tumors.
* Reference No.13
** Reference No. 14.