Pathology · single question
Significant ear deformities (such as microtia) combined with malar and mandibular hypoplasia are classically associated with which syndrome?
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Correct answer: A. Treacher Collins syndrome (mandibulofacial dysostosis)
Treacher Collins syndrome (mandibulofacial dysostosis) classically presents with malar and mandibular hypoplasia, downward-sloping palpebral fissures, and significant ear anomalies (including microtia and conductive hearing loss), resulting from abnormal first and second pharyngeal arch development.