Giant-cell chondrodysplasia in a male infant with clinical and radiological findings resembling the Piepkorn type of lethal osteochondrodysplasia

Am J Med Genet. 1997 Jan 31;68(3):342-6.


We report on a patient whose clinical, radiologic, and histopathologic findings are compatible with the Piepkorn type of lethal short-limb osteochondrodysplasia, but who also showed multinucleated giant chondrocytes in cartilage. Multinucleated giant cells are an unusual finding in osteochondrodysplasias, having been reported in atelosteogenesis type I and boomerang dysplasia. This uncommon histopathologic finding and the clinical and radiographic findings strongly support the diagnosis of boomerang dysplasia in the present patient. Our patient supports the previously suggested existence of an entity including atelosteogenesis and boomerang dysplasia. If this is so, the current patient and that described by Piepkorn et al. [1977: Teratology 16:345-350] could represent the most severe clinical expression of that condition.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cartilage / pathology*
  • Fatal Outcome
  • Giant Cells / pathology*
  • Humans
  • Male
  • Osteochondrodysplasias / diagnostic imaging
  • Osteochondrodysplasias / pathology*
  • Phenotype
  • Radiography