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Pediatric pathology - Case records

Case #12789 - Metachromatic leukodystrophy
29 November 2007
Case #10199 - Macrocephaly
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)