X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher

Birth Defects Orig Artic Ser. 1971 Mar;07(4):64-9.


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.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Audiometry
  • Child
  • Child, Preschool
  • Deafness / genetics*
  • Ear Ossicles / abnormalities*
  • Female
  • Genes, Dominant
  • Heterozygote
  • Humans
  • Labyrinthine Fluids*
  • Male
  • Middle Aged
  • Pedigree
  • Perilymph*
  • Sex Chromosomes
  • Stapes / abnormalities*
  • Syndrome