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  • Title: Pendred's syndrome. Acoustic, vestibular and radiological findings in 17 unrelated patients.
    Author: Johnsen T, Larsen C, Friis J, Hougaard-Jensen F.
    Journal: J Laryngol Otol; 1987 Nov; 101(11):1187-92. PubMed ID: 3694034.
    Abstract:
    Seventeen unrelated Danish patients with Pendred's syndrome, whose case stories have not been published previously, are presented. Acoustic and vestibular functions were examined and endocrinological screening was performed. There was a great variation in hearing ability as well as in thyroid function. Furthermore, in contrast to previous investigations, normal caloric function was demonstrated in the majority. In all patients a Mondini malformation was demonstrated. On the basis of this investigation it is concluded that: (1) the Mondini defect is part of Pendred's syndrome; (2) the inherited Mondini malformation is the underlying cause of the sensorineural hearing impairment; and (3) the hearing sensitivity varies greatly in these patients.
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