Skip to main content
Log in

X-linked deafness, stapes gushers and a distinctive defect of the inner ear

  • Originals
  • Published:
Neuroradiology Aims and scope Submit manuscript


The association of X-linked mixed deafness with stapes gusher has been recognised for 20 years, and imaging studies by polytomography have shown dilatation of the lateral end of the internal auditory meatus (IAM) in some cases. We have made genetic linkage studies in 7 pedigrees in whom deafness was inherited in an X-linked manner. All patients had a full range of audiometric and vestibular function tests. Thin section high resolution CT in two planes was used to assess the state of the middle and inner ears. We found a distinctive inner ear deformity in some of the deaf males characterised not only by a wide bulbous IAM but more importantly, by deficient or absent bone between the lateral end of the IAM and the basal turn of the cochlea. We believe that this results in a communication between the subarachnoid space in the IAM and the perilymph in the cochlea, leading to perilymphatic hydrops and a “gusher” if the stapes is disturbed. Moreover, some of the obligate female carriers seem to have a milder form of the same anomaly associated with slight hearing loss. Genetic studies on some of the deaf males with apparently normal inner ear anatomy suggest a different locus on the X chromosome and hence a different pathogenesis for the deafness.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others


  1. Nance WE, Setleff R, McLedd A, Sweeney A, Cooper C, McDonnell F (1971) X-linked deafness with congenital fixation of the stapedial footplate and perilymphatic gusher. Birth Defects 7: 64–69

    Google Scholar 

  2. Olson NR, Lehman RH (1968) Cerebrospinal fluid otorrhea and the congenitally fixed stapes. Laryngoscope 78: 352–359

    Google Scholar 

  3. Glasscock ME (1973) The stapes gusher. Arch Otolaryngol 98: 82–91

    Google Scholar 

  4. Jensen J, Terkildsen K, Thomsen KA (1977) Inner malformations with oto-liquorrhea. Tomographic findings in three cases with a mixed hearing impairment. Arch Otorhinolaryngol 214: 271–282

    Google Scholar 

  5. Bento RF, Miniti A (1985) X-linked mixed hearing loss: four case studies. Laryngoscope 95: 462–468

    Google Scholar 

  6. Cremers CWRJ, Hombergen GCHJ, Scaf JJ, Huygen PLM, Volkers WS, Pinckers AJLG (1985) X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery. Arch Otolaryngol 111: 249–254

    Google Scholar 

  7. Phelps PD, Lloyd GAS (1978) Congenital deformity of the internal auditory meatus and labyrinth associated with cerebrospinal fluid fistula. Adv Otorhinolaryngol 24: 51–57

    Google Scholar 

  8. Phelps PD (1986) Congenital cerebrospinal fluid fistulae of the petrous temporal bone. Clin Otolaryngol 11: 79–92

    Google Scholar 

  9. Phelps PD, Lloyd GAS (1990) Diagnostic imaging of the ear. Springer, London, pp 12–13

    Google Scholar 

  10. McKusick VA (1988) Mendelian inheritance in man, 3rd edn. John Hopkins University Press, Baltimore, pp 1272–1273

    Google Scholar 

  11. Cremers CWRJ, Huygen PLM (1983) Clinical features of female heterozygotes in the X-linked mixed deafness syndrome (with perilymphatic gusher during stapes surgery). Int J Pediatr Otorhinolaryngol 6: 179–185

    Google Scholar 

  12. Phelps PD, Lloyd GAS (1990) Diagnostic imaging of the ear. Springer, London, p 175

    Google Scholar 

  13. Thorpe P, Sellars S, Beighton P (1974) X-linked deafness in South African kindred. S Afr Med J 48: 587–590

    Google Scholar 

  14. Wallis C, Ballo R, Wallis G, Beighton P, Goldblatt J (1988) X-linked mixed deafness with stapes fixation in a Mauritian kindred linkage to X1 Probe pDP34. Genomics 3: 299–301

    Google Scholar 

  15. Phelps PD (1990) Mondini and “Pseudo Mondini”. Clin Otolaryngol 15: 99–101

    Google Scholar 

Download references

Author information

Authors and Affiliations


Rights and permissions

Reprints and permissions

About this article

Cite this article

Phelps, P.D., Reardon, W., Pembrey, M. et al. X-linked deafness, stapes gushers and a distinctive defect of the inner ear. Neuroradiology 33, 326–330 (1991).

Download citation

  • Received:

  • Issue Date:

  • DOI:

Key words