Female siblings with Pendred's syndrome.
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.
Nakagawa
O
O
First Department of Internal Medicine, Niigata University School of Medicine.
Ito
S
S
Hanyu
O
O
Yamazaki
M
M
Urushiyama
M
M
Tani
N
N
Shibata
A
A
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
D005819:Genetic Markers; D006684:HLA-DR Antigens