X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher.
An X-linked syndrome characterized in males by profound mixed deafness, vestibular abnormalities, congenital fixation of the stapes and perilymphatic otorrhea on attempted stapedectomy has been documented in a large Caucasian kindred. Female heterozygotes have similar but milder audiologic abnormalities. The syndrome of congenital fixation of the stapes with perilymphatic gusher may be a relatively common form of X-linked deafness and is an important clinical entity because affected males may be significantly benefited by sound amplification.
D001299:Audiometry; D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000235:genetics*; D004429:Ear Ossicles / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006579:Heterozygote; D006801:Humans; D007761:Labyrinthine Fluids; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010498:Perilymph; D012730:Sex Chromosomes; D013199:Stapes / Q000002:abnormalities*; D013577:Syndrome