title: Female siblings with Pendred's syndrome.
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.
authors.affiliation: First Department of Internal Medicine, Niigata University School of Medicine.
authors.forename: O
authors.initials: O
authors.lastname: Nakagawa
authors.forename: S
authors.initials: S
authors.lastname: Ito
authors.forename: O
authors.initials: O
authors.lastname: Hanyu
authors.forename: M
authors.initials: M
authors.lastname: Yamazaki
authors.forename: M
authors.initials: M
authors.lastname: Urushiyama
authors.forename: N
authors.initials: N
authors.lastname: Tani
authors.forename: A
authors.initials: A
authors.lastname: Shibata
mesh_terms: D000293:Adolescent; D003051:Cochlea / Q000473:pathology; D005260:Female; D005802:Genes, MHC Class II; D005819:Genetic Markers; D006042:Goiter / Q000151:congenital* / Q000235:genetics; D006684:HLA-DR Antigens / Q000032:analysis / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D013577:Syndrome
chemical_list: D005819:Genetic Markers; D006684:HLA-DR Antigens