Pathology · patient case question
All of the following are features of Gorlin-Goltz syndrome EXCEPT:
Patient case: Gorlin-Goltz syndrome
Scenario: A patient with GORLIN-GOLTZ syndrome (nevoid basal cell carcinoma syndrome).
Show answer and explanation
Correct answer: A. Missing or hypoplastic clavicles
- A. Correct — this is the EXCEPTION. Absent or hypoplastic clavicles (allowing the shoulders to be approximated in front of the chest) belong to CLEIDOCRANIAL DYSPLASIA, not Gorlin-Goltz.
- B. Multiple odontogenic keratocysts are a cardinal feature and are often the presenting sign in adolescence — this is why the dentist frequently makes the diagnosis.
- C. Bifid, splayed or fused ribs are a recognised skeletal feature.
- D. Calcification of the falx cerebri, frontal and parietal bossing, and multiple basal cell carcinomas complete the classic picture.