New epiphyseal stippling syndrome with osteoclastic hyperplasia.

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.

• Authors: M Shohat, D L Rimoin, H E Gruber, R Lachman
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 45 Issue 5 Pg. 558-61 (Mar 01 1993) ISSN: 0148-7299 [Print] United States
• PMID: 8456823 (Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)

Topics

• Chondrodysplasia Punctata (diagnostic imaging, genetics, pathology)
• Female
• Humans
• Hyperplasia
• Infant, Newborn
• Osteoclasts (pathology)
• Radiography
• Syndrome