A male child presented with complaints of short stature.
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Radiographs of b/l knee and ankle joints in AP and lateral projections were taken.
Radiographs of b/l knee and ankle joints were taken in AP and Lateral projections. Multiple punctate calcific deposits at epiphysis is noted.
The findings in a 4 Y/O patient are compatible with chondrodysplasia punctata.
Chondrodysplasia punctata can be divided into Rhizomelic type and Non rhizomelic or Conradi-Hunnerman type. Spectrum varies from lethal to non lethal type with variable inheritance ranging from autosomal to x linked recessive type. Calcific stippling of cartilage and peri-articular soft tissues is often a common feature.
- Irving MD, Chitty LS, Mansour S et-al. Chondrodysplasia punctata: a clinical diagnostic and radiological review. Clin. Dysmorphol. 2008;17 (4): 229-41. doi:10.1097/MCD.0b013e3282fdcc70 - Pubmed citation
- Pazzaglia UE, Zarattini G, Donzelli C et-al. The nature of cartilage stippling in chondrodysplasia punctata: histopathological study of Conradi-Hünermann syndrome. Fetal Pediatr Pathol. 2008;27 (2): 71-81. doi:10.1080/15513810802077487 - Pubmed citation