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Case #10199 - Macrocephaly

Thursday 16 November 2006

Synopsis

- macrocephaly
- callous corpus agenesis
- median line dermoid cyst or median line dermal sinus
- basal cell carcinoma

Diagnosis

- basal cell nevus syndrome (BCNS or Gorlin syndrome) (MIM.109400)

  • PTCH mutations (MIM.601309)