FEMALE SIBLINGS WITH PENDREDS-SYNDROME

Female siblings with Pendred's syndrome were admitted to our clinic. T he abnormality of the acoustic structure was examined by MRI. Bilatera l enlargement of the vestibular aqueduct and a prominently marked endo lymphatic sac were found on MRI. These findings seemed likely to repre sent a Mondini deformity. Acoustic structure in Pendred's syndrome was examined here by MRI for the first time. We examined their HLA-DR loc us as a genetic marker using the affected sib-pair method preliminary. HLA typing might be a diagnostic criteria of Pendred's syndrome, alth ough the present siblings possessed 2 HLA genes in common.