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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
Summary
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.
- 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.