Literature DB >> 8456823

New epiphyseal stippling syndrome with osteoclastic hyperplasia.

M Shohat1, D L Rimoin, H E Gruber, R Lachman.   

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.

Entities:  

Mesh:

Year:  1993        PMID: 8456823     DOI: 10.1002/ajmg.1320450506

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

Review 1.  Punctate epiphyses: a radiological sign not a disease.

Authors:  A K Poznanski
Journal:  Pediatr Radiol       Date:  1994

2.  Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features.

Authors:  Stephen F Miller; Virginia K Proud; Alice L Werner; Fiona M Field; William F Wilcox; Ralph S Lachman; David L Rimoin
Journal:  Pediatr Radiol       Date:  2003-02-05

3.  Mucolipidosis II presenting as severe neonatal hyperparathyroidism.

Authors:  Sheila Unger; David A Paul; Michelle C Nino; Charles P McKay; Stephen Miller; Etienne Sochett; Nancy Braverman; Joe T R Clarke; David E C Cole; Andrea Superti-Furga
Journal:  Eur J Pediatr       Date:  2004-12-03       Impact factor: 3.183

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.