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Related Experiment Videos

A case of brachyolmia

N Karabiyik1, F Oğuz, M Sidal

  • 1Department of Pediatrics, Istanbul University Istanbul Faculty of Medicine.

The Turkish Journal of Pediatrics
|July 1, 1997
PubMed
Summary

This study details a patient with brachyolmia, a skeletal dysplasia. Findings suggest Type I brachyolmia due to recessive inheritance and glycosaminoglycan anomalies.

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Area of Science:

  • Medical Genetics
  • Skeletal Dysplasias
  • Biochemistry

Background:

  • Brachyolmia is a skeletal dysplasia defined by platyspondyly.
  • Existing classifications include Types I, II, and III.