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Related Experiment Videos

Radiographic findings in liveborn triploidy.

K G Silverthorn1, C S Houston, D E Newman

  • 1Department of Radiology, University Hospital, Saskatoon, Saskatchewan, Canada.

Pediatric Radiology
|January 1, 1989
PubMed
Summary
This summary is machine-generated.

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Triploidy, a fatal genetic disorder, presents distinct radiographic features in infants. These include specific skeletal abnormalities aiding in diagnosis.

Area of Science:

  • Medical imaging
  • Genetics
  • Pediatric radiology

Background:

  • Triploidy (69 chromosomes) is a severe congenital disorder with high mortality.
  • Radiographic manifestations of triploidy have not been systematically documented.
  • Accurate diagnosis is crucial for genetic counseling and management.

Observation:

  • Radiographs from ten infants with confirmed triploidy were analyzed.
  • Six key radiographic findings were identified as highly suggestive of triploidy.
  • Comparison with trisomy 18 revealed overlapping, less specific features.

Findings:

  • Highly suggestive findings: harlequin orbits, small anterior fontanelle, gracile ribs, diaphyseal overtubulation, upswept clavicles, and antimongoloid pelvis.
  • These features provide a recognizable pattern for diagnosing triploidy.

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  • Differential diagnosis should consider conditions with similar skeletal findings, like trisomy 18.

    • Implications:

    • Establishes a diagnostic radiographic profile for triploidy.
    • Aids in earlier and more accurate identification of this fatal condition.
    • Facilitates genetic counseling and understanding of triploidy's impact.