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"Duplicate calcaneus": a rare developmental defect observed in several skeletal dysplasias
V Cormier-Daire1, R Savarirayan, S Unger
1Cedars-Sinai Medical Center and UCLA School of Medicine, Los Angeles, California 90048, USA.
Pediatric Radiology
|February 24, 2001
Summary
Duplication of the calcaneus, a rare radiographic finding, is consistently observed in specific skeletal dysplasias. This finding suggests a generalized developmental defect in conditions like thanatophoric dysplasia and chondrodysplasia punctata.
Area of Science:
- Skeletal Radiology
- Developmental Biology
- Genetics
Background:
- Duplication of the calcaneus is a rare radiographic finding.
- It is likely caused by delayed coalescence of primary ossification centers.
Purpose of the Study:
- To investigate the association between calcaneal duplication and skeletal dysplasias.
- To identify specific skeletal dysplasias where calcaneal duplication is a consistent feature.
Main Methods:
- Reviewed 2,500 computerized cases from the International Skeletal Dysplasia Registry.
- Searched for cases with recorded calcaneal duplication.
Main Results:
- Calcaneal duplication was found to be a non-random feature in three skeletal dysplasia groups.
- These groups included thanatophoric dysplasia and chondrodysplasia punctata (short rib polydactyly).
Conclusions:
- Calcaneal duplication is a consistent feature of specific skeletal dysplasias.
- This finding may indicate a more generalized developmental defect in affected individuals.