Pathology · single question
A child has no teeth, periorbital wrinkles, and dry skin. What is the diagnosis?
Show answer and explanation
Correct answer: A. Stickler syndrome
- A. 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.
- B. Incorrect. Stickler syndrome presents with joint hypermobility, myopia, cleft palate — not anodontia and periorbital wrinkles.
- C. Incorrect. Pierre Robin shows micrognathia, cleft palate, and glossoptosis — not anodontia.
- D. Incorrect. Paget disease of bone presents in adults with enlarged skull, bone pain, and deafness.
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