Pathology · single question
Which syndrome is characterized by malformation of the facial bones (mandibulofacial dysostosis) with downslanting eyes, malar/mandibular hypoplasia, and ear anomalies?
Show answer and explanation
Correct answer: A. Treacher Collins syndrome
- A. Correct. Treacher Collins (mandibulofacial dysostosis) features symmetric facial-bone hypoplasia, downslanting palpebral fissures, and ear malformations.
- B. Crouzon centers on premature cranial-suture fusion (craniosynostosis).
- C. Pierre Robin is a sequence of micrognathia, glossoptosis, and cleft palate.
- D. Apert features craniosynostosis with syndactyly of hands/feet.