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Related Experiment Videos

Stapes fixation associated with symphalangia

H Ueda1, T Miyazawa, T Fujimoto

  • 1Department of Otorhinolaryngology, Nagoya University School of Medicine, Japan.

Archives of Otolaryngology--Head & Neck Surgery
|October 1, 1996
PubMed
Summary

This study details a rare genetic condition causing conductive hearing loss and joint stiffness in siblings. Surgical intervention on the stapes bone significantly improved hearing in affected children.

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Area of Science:

  • Otolaryngology
  • Genetics
  • Orthopedics

Background:

  • Bilateral hearing loss and joint ankylosis (symphalangia) can present as a rare inherited disorder.
  • Understanding the specific anatomical and histopathological causes is crucial for effective treatment.

Observation:

  • A 10-year-old boy and his 9-year-old sister presented with bilateral conductive hearing loss.
  • Both siblings also exhibited ankylosis of proximal interphalangeal joints (symphalangia) and some finger and toe joints.
  • No other systemic abnormalities were noted during examination.

Findings:

  • The conductive hearing loss was attributed to bony fusion between the stapes and the oval window niche.
  • Histopathology revealed abnormal ossification and calcification within the annular ligament of the stapes, causing fixation.

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  • No other middle or external ear anatomical abnormalities were identified.

    • Implications:

    • Stapes surgery can effectively restore hearing in patients with this specific type of conductive hearing loss.
    • This case highlights the link between skeletal abnormalities (symphalangia) and auditory ossicle fixation.
    • Further research into the genetic basis of this condition may reveal new therapeutic targets.