Pathology · patient case question
Which finding is most characteristic of this condition?
Patient case: Delayed eruption and a narrow chest
Patient: Female, 12 years old
Chief Complaint: “My adult teeth never came in.”
Background: Father had a similar dental history. No systemic illness.
Findings: Frontal and parietal bossing, hypertelorism. She can approximate her shoulders in front of her chest. Panoramic radiograph: multiple retained primary teeth, numerous unerupted permanent teeth and several supernumerary teeth.
Show answer and explanation
Correct answer: D. Hypoplastic or aplastic clavicles
- A. Bilateral multilocular radiolucencies describe cherubism, a different childhood jaw condition with no clavicular involvement.
- B. Blue sclerae point to osteogenesis imperfecta, often with dentinogenesis imperfecta. Clavicles are not selectively affected.
- C. Absent or reduced sweat glands belong to hypohidrotic ectodermal dysplasia. In that condition teeth are MISSING; here they are supernumerary — the opposite dental finding.
- D. CORRECT. Cleidocranial dysplasia (RUNX2 mutation, autosomal dominant) is defined by hypoplastic or completely absent CLAVICLES — which is why the shoulders can be brought together across the chest. The other two limbs of the classic triad are delayed closure of the cranial sutures and fontanelles, and the dental picture of retained primary teeth, multiple unerupted permanents and supernumeraries.