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    SubjectsPediatricsAudiogram — CHARGE Syndrome Mixed Hearing Loss
    ClinicalPediatrics

    Audiogram — CHARGE Syndrome Mixed Hearing Loss

    1 MCQs in Pediatrics for NEET PG

    1 Hard
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    Sample Questions

    hard

    A 3-month-old boy born to non-consanguineous parents presents with bilateral ear malformations (wide protruding "lop ears" with notched lobules), iris coloboma, and a history of neonatal cyanosis relieved by crying. Audiometry reveals the pattern marked **A** in the diagram. Genetic testing identifies a de novo heterozygous loss-of-function mutation in CHD7 on chromosome 8q12.2. Which of the following best explains the pathophysiological basis of the hearing loss pattern seen at **A**?

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