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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.
Insights
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.
Abstract:
The detailed radiographic features of triploidy, a fatal congenital disorder with 69 chromosomes, have not previously been reported. Radiographs of ten liveborn infants with chromosomally confirmed triploidy showed six findings highly suggestive of this diagnosis: harlequin orbits, small anterior fontanelle, gracile ribs, diaphyseal overtubulation of long bones, upswept clavicles and antimongoloid pelvis. Sixteen other less specific findings showed many similarities to those found in trisomy 18.