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    SubjectsENTStickler Syndrome SNHL
    ClinicalENT

    Stickler Syndrome SNHL

    1 MCQs in ENT for NEET PG

    1 Medium
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    Sample Questions

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    A 12-year-old girl presents with progressive bilateral hearing loss detected on routine audiometry. The audiogram shows the pattern marked **B** in the diagram — high-frequency sensorineural loss. On examination, she has midface flattening with malar hypoplasia, a high-arched palate, and significant myopia (−8 D). Ophthalmologic evaluation reveals a characteristic membranous vitreous anomaly and early cataracts. Which genetic mutation is most likely responsible for this clinical presentation?

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