Treacher Collins Features — MFDS Part 1 MCQ
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Correct answer: D — Symmetrical bilateral malar and mandibular hypoplasia, downslanting palpebral fissures, and microtia
Option D is correct. Treacher Collins syndrome characteristically causes symmetrical, bilateral hypoplasia of the zygomatic or malar bones and mandible, with downslanting palpebral fissures and external-ear abnormalities such as microtia. Lower-eyelid colobomas and conductive hearing loss may also occur. Option B is more typical of craniofacial microsomia or oculo-auriculo-vertebral spectrum, which is usually asymmetric. Option C describes Pierre Robin sequence. Option E is characteristic of a syndromic craniosynostosis such as Crouzon syndrome. Option A describes frontonasal dysplasia. Treacher Collins syndrome is genetically heterogeneous, so attributing every case solely to TCOF1 would be inaccurate.
Reference: Vincent M et al. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genetics in Medicine. 2015;18:49–56. https://pubmed.ncbi.nlm.nih.gov/25790162/