New epiphyseal stippling syndrome with osteoclastic hyperplasia

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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


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
Issue number5
StatePublished - 1993
Externally publishedYes


FundersFunder number
Eunice Kennedy Shriver National Institute of Child Health and Human DevelopmentP01HD022657


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


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