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Question: Syndromes

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You are seeing a patient with history of congenital sensorineural hearing loss. 

For which of the following chief complaints might h/o hearing loss be relevant?

pemsou5_wp • April 5, 2022

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  1. Kelly April 6, 2022 - 2:52 pm Reply

    E) All of the above
    There are several genetic syndromes with hearing loss as a prominent feature: Alport’s syndrome involves hearing loss, eye abnormalities, and persistent microscopic hematuria starting in childhood. The renal issues can progress to renal failure. Penred syndrome is an association of hearing loss with abnormal iodine metabolism, leading to euthyroid goiter. Jervell and Lange-Nielsen syndrome associates hearing loss with long QT. The most common types of Usher syndrome present with hearing loss at birth, and vision loss due to retinitis pigmentosa in the preteen or teen years.

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