Pediatric Dentistry · patient case question
Which finding is NOT expected in a patient with Down syndrome?
Patient case: The Hypothyroid Patient with an Aching Jaw
Patient: 54-year-old female
Chief Complaint: Generalized aching in the jaws and fatigue.
Background: Hashimoto thyroiditis diagnosed two years ago. Recently also investigated for bone pain; laboratory work shows a raised alkaline phosphatase with low vitamin D.
Medications: Levothyroxine
Vital Signs: BP 118/74 mmHg · HR 58 bpm · RR 14 · T 97.4°F
Findings: Dry cool skin, coarse hair, periorbital puffiness, slow relaxation of deep tendon reflexes. Intraorally the tongue is enlarged with scalloped margins. Panoramic film shows generalized reduced bone density.
Show answer and explanation
Correct answer: B. Microglossia
- A. This IS expected. Eruption is delayed and irregular in both dentitions, and the sequence is frequently abnormal.
- B. CORRECT — this is the exception. Down syndrome is associated with MACROglossia, not microglossia — a relatively large, often fissured tongue in a small oral cavity with maxillary hypoplasia, which contributes to the open-mouth posture and mouth-breathing.
- C. This IS expected. Intellectual disability of variable degree is a defining feature of trisomy 21.
- D. This IS expected, and it is the most clinically important dental issue. Periodontal disease is early-onset, rapidly progressive and severe, driven by impaired neutrophil chemotaxis and phagocytosis. It affects the mandibular anteriors particularly.
Note: Other features: hypodontia and microdontia, a Class III tendency from maxillary hypoplasia, a fissured tongue, atlantoaxial instability (which matters for head positioning under sedation or GA), and congenital cardiac defects in roughly 40–50% — which used to but no longer automatically indicates antibiotic prophylaxis. Trisomy 21 is the CHROMOSOME most commonly involved in a viable trisomy.
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