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  • Title: X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher.
    Author: Nance WE, Setleff R, McLeod A, Sweeney A, Cooper C, McConnell F.
    Journal: Birth Defects Orig Artic Ser; 1971 Mar; 07(4):64-9. PubMed ID: 5173351.
    Abstract:
    An X-linked syndrome characterized in males by profound mixed deafness, vestibular abnormalities, congenital fixation of the stapes and perilymphatic otorrhea on attempted stapedectomy has been documented in a large Caucasian kindred. Female heterozygotes have similar but milder audiologic abnormalities. The syndrome of congenital fixation of the stapes with perilymphatic gusher may be a relatively common form of X-linked deafness and is an important clinical entity because affected males may be significantly benefited by sound amplification.
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