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Related Experiment Videos

Familial os odontoideum. Case report.

M K Morgan1, B M Onofrio, C E Bender

  • 1Department of Neurosurgery, Mayo Medical School/Mayo Clinic, Rochester, Minnesota.

Journal of Neurosurgery
|April 1, 1989
PubMed
Summary

This study reports a family with asymptomatic os odontoideum and Klippel-Feil type II fusion, inherited in an autosomal dominant pattern. Despite spinal subluxation, magnetic resonance imaging revealed no cord compression in the affected individuals.

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Area of Science:

  • Orthopedics
  • Genetics
  • Radiology

Background:

  • Os odontoideum is a rare congenital anomaly characterized by an elongated, rounded odontoid process.
  • Klippel-Feil syndrome involves congenital fusion of cervical vertebrae, often presenting with a short neck and limited range of motion.
  • Familial occurrence suggests a genetic predisposition.

Observation:

  • A family presented with asymptomatic os odontoideum and Klippel-Feil type II fusion (C2-C3) in multiple members.
  • Autosomal dominant inheritance pattern observed within the family.
  • The index case, a 16-year-old male, underwent comprehensive spinal imaging.

Findings:

  • Cervical spine X-rays, tomography, and fluoroscopy revealed subluxation during flexion and extension.

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  • Magnetic resonance (MR) imaging demonstrated no evidence of spinal cord compression despite the observed subluxation.
  • The familial pattern is consistent with autosomal dominant inheritance.

    • Implications:

    • This case highlights the potential for asymptomatic presentation of os odontoideum and Klippel-Feil fusion.
    • Understanding the genetic basis is crucial for familial screening and genetic counseling.
    • The absence of cord compression in the presence of subluxation warrants further investigation into the biomechanics and clinical management of this condition.