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Case Reports
. 1994 Jun;33(6):369-72.
doi: 10.2169/internalmedicine.33.369.

Female siblings with Pendred's syndrome

O Nakagawa  1 , S Ito, O Hanyu, M Yamazaki, M Urushiyama, N Tani, A Shibata
Affiliations
Free article
Case Reports

Female siblings with Pendred's syndrome

O Nakagawa et al. Intern Med. 1994 Jun.
Free article

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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