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  • Title: Female siblings with Pendred's syndrome.
    Author: Nakagawa O, Ito S, Hanyu O, Yamazaki M, Urushiyama M, Tani N, Shibata A.
    Journal: Intern Med; 1994 Jun; 33(6):369-72. PubMed ID: 7919627.
    Abstract:
    Female siblings with Pendred's syndrome were admitted to our clinic. The abnormality of the acoustic structure was examined by MRI. Bilateral enlargement of the vestibular aqueduct and a prominently marked endolymphatic sac were found on MRI. These findings seemed likely to represent a Mondini deformity. Acoustic structure in Pendred's syndrome was examined here by MRI for the first time. We examined their HLA-DR locus as a genetic marker using the affected sib-pair method preliminary. HLA typing might be a diagnostic criteria of Pendred's syndrome, although the present siblings possessed 2 HLA genes in common.
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