Open Access
Table I
Diagnostic criteria for Gorlin-Goltz syndrome (or nevoid basal cell carcinoma. syndrome, NBCCS) [6].
| Major criteria | Minor criteria |
|---|---|
| ▪ Multiple (>2) basal cell carcinomas, or one diagnosed under 20 years ▪ Odontogenic keratocysts proven by histology ▪ ≥3 palmar or plantarpits ▪ Ectopic calcification (lamellar or earlyfalx) ▪ Bifid, fused or marked lysplayed ribs ▪ Family history of NBCCS ▪ PTCH mutation |
▪ Macrocephaly determined after adjustment for height (≥97th percentile) ▪ Bridging of the sella turcica, vertebral anomalies such as hemivertebrae, fusion or elongation of the vertebral bodies, modeling defects of the hands and feet ▪ Cleft lip or palate, polydactyly ▪ Cardiac or ovarian fibroma ▪ Medulloblastoma ▪ Other skeletal abnormalities: Sprengel deformity, marked pectus deformity, marked syndactyly of the digits ▪ Eye anomaly: cataract, coloboma, microphtalmia |
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