- Case Report
- Basal cell nevus syndrome (gorlin syndrome) confirmed by PTCH mutations and deletions
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Hee Moon Kim, Chul Hee Lee, Sung Koo Kim, Tae Jung Sung
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Clin Exp Pediatr. 2007;50(8):789-793. Published online August 15, 2007
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Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is a rare autosomal dominant disorder characterized by variable manifestations, including multiple basal cell carcinomas, odontogenic keratocysts of the jaw, skeletal anomalies including scoliosis and bifid ribs, palmar and plantar pits, calcification of the falx cerebri, and biparietal frontal bossing. We report a case of a 9-year-old boy with the... |
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