Gorlin syndrome or nevoid basal cell carcinoma syndrome NBCCS Veenstra Knol H E et al Eur J Pediatr 1643126 30 2005 Presence of two major criteria or one major and two ID: 937353
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Diagnostic criteria for Gorlin syndrome (or nevoid basal cell carcinoma syndrome, NBCCS) ( Veenstra - Knol H . E . et al., Eur . J. Pediatr . 164(3):126 – 30 , 2005 ) Presence of two major criteria or one major and two minor criteria Major criteria ▪ Multiple �(2) basal cell carcinomas , or one diagnosed under 20 years ▪ Odontogenic keratocysts proven by histo logy ▪ ≥ 3 p almar or plantar pits ▪ Ectopic calcification (lamellar or early falx ) ▪ Bifid, fused or markedly splayed ribs ▪ Family history of NBCCS Minor criteria ▪ Macrocephaly determined after adjustment for height ( ≥ 97 th percentile) ▪ B ridging of the sella turcica, vertebral anomalies such as hemivertebrae, fusion or elongation of the vertebral bodies, modeling defects of the hands and feet ▪ C left lip or palate, polydactyly ▪ Cardiac or o varian fibroma ▪ Medulloblastoma ▪ Other skeletal abnormalities: S prengel deformity, marked p ectus deformity, marked syndactyly of the digits ▪ Eye anomaly: cataract, coloboma, microphtalmia ▪ PTCH mutation