Physiology & Biochemistry · single question
A 6-year-old presents with downward-slanting palpebral fissures, mandibular hypoplasia, external ear deformities, and conductive hearing loss. Which syndrome is most likely?
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Correct answer: A. Treacher Collins syndrome
- A. Correct. Treacher Collins (mandibulofacial dysostosis) classically shows down-slanting palpebral fissures, malar/mandibular hypoplasia, external/middle-ear malformations and conductive hearing loss.
- B. Crouzon features craniosynostosis, midface hypoplasia and exophthalmos — not down-slanting fissures with ear deformity.
- C. Pierre Robin is the triad of micrognathia, glossoptosis and cleft palate — no ear-deformity/hearing-loss emphasis.
- D. Apert adds craniosynostosis plus syndactyly of hands and feet.
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