Three familial cases of hearing loss associated with enlargement of the vestibular aqueduct.
The present report describes three familial cases of recessive hearing loss associated with enlargement of the vestibular aqueduct (EVA). Six siblings from three families showed EVA. The common characteristic of these patients was the presence of congenital, high-frequency, fluctuating sensorineural hearing loss. These cases suggest that EVA may be a useful discriminator between different types of recessive hearing loss.
Abe
S
S
Department of Otorhinolaryngology, Hirosaki University School of Medicine, Japan.
Usami
S
S
Shinkawa
H
H
D000293:Adolescent; D001301:Audiometry, Pure-Tone; D002648:Child; D002675:Child, Preschool; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D006984:Hypertrophy; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D014057:Tomography, X-Ray Computed; D014723:Vestibular Aqueduct / Q000473:pathology*