1994 Volume 33 Issue 6 Pages 369-372
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 sibpair method preliminary. HLA typing might be a diagnostic criteria of Pendred's syndrome, although the present siblings possessed 2 HLA genes in common.
(Internal Medicine 33: 369-372, 1994)
