New epiphyseal stippling syndrome with osteoclastic hyperplasia

M. Shohat, D. L. Rimoin, H. E. Gruber, R. Lachman

Research output: Contribution to journalArticlepeer-review

Abstract

We present a lethal skeletal dysplasia characterized radiographically by severe stippling of the lower spine and long bones and periosteal cloaking. In contrast to the normal morphology of the epiphyses and growth plates, the marrow was filled with loose fibrous tissue containing numerous large multinucleated osteoclasts which were associated with Howship's lacunae on the endosteal surface. We suggest the term 'Pacman dysplasia' to describe this unusual histologic change that characterizes this new bone dysplasia.

Original languageEnglish
Pages (from-to)558-561
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume45
Issue number5
DOIs
StatePublished - 1993
Externally publishedYes

Keywords

  • Pacman syndrome
  • epiphyseal stippling
  • osteoclast hyperplasia
  • skeletal dysplasia

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