Physiology & Biochemistry · patient case question
Cherubism follows which pattern of inheritance?
Patient case: Syndromes recognised at the chair
demo: Paediatric and young adult clinic
chief: Several patients whose facial and dental features point to a recognisable syndrome.
history: One child has bilateral painless expansion of the mandibular angles with an upward gaze, and a father with the same childhood history. Another has downslanting palpebral fissures, malar hypoplasia and malformed external ears. A third has notched, screwdriver-shaped permanent incisors and multicusped first molars. A fourth has a smooth philtrum, a thin upper lip and short palpebral fissures.
meds: None.
findings: Not applicable.
Show answer and explanation
Correct answer: D. Autosomal dominant with variable expressivity
- A. X-linked recessive inheritance would produce a male-predominant pattern with transmission through carrier mothers, not from an affected father to a child.
- B. Mitochondrial inheritance passes exclusively through the mother and does not fit.
- C. Autosomal recessive inheritance would require two carrier parents and would not show the father-to-child transmission described.
- D. Correct. Cherubism is autosomal dominant with variable expressivity and reduced penetrance in females, caused by mutations in the SH3BP2 gene. It presents between 2 and 5 years with painless bilateral expansion of the jaws, radiographically multilocular radiolucencies, and characteristically it regresses spontaneously after puberty.
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