Pathology · single question

A child has no teeth, periorbital wrinkles, and dry skin. What is the diagnosis?

  1. Pierre Robin sequence
  2. Ectodermal dysplasia
  3. Paget disease
  4. Stickler syndrome
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Correct answer: B. Ectodermal dysplasia

  • A. ❌ Pierre Robin shows micrognathia, cleft palate, and glossoptosis — not anodontia.
  • B. ✅ Correct. Hypohidrotic ectodermal dysplasia presents with the classic triad: hypodontia/anodontia, hypohidrosis (absent sweat glands → heat intolerance), and hypotrichosis (sparse hair). Periorbital wrinkles and dry skin are characteristic.
  • C. ❌ Paget disease of bone presents in adults with enlarged skull, bone pain, and deafness.
  • D. ❌ Stickler syndrome presents with joint hypermobility, myopia, cleft palate — not anodontia and periorbital wrinkles.

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