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伴有破骨细胞增生的新型骨骺点状发育不良综合征。

New epiphyseal stippling syndrome with osteoclastic hyperplasia.

作者信息

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

机构信息

Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA 90048.

出版信息

Am J Med Genet. 1993 Mar 1;45(5):558-61. doi: 10.1002/ajmg.1320450506.

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.

摘要

我们报告一种致死性骨骼发育不良,其影像学特征为下脊柱和长骨严重骨斑点以及骨膜覆盖。与骨骺和生长板的正常形态不同,骨髓充满了疏松的纤维组织,其中含有大量大型多核破骨细胞,这些破骨细胞与骨内膜表面的豪氏陷窝相关。我们建议用“吃豆人发育不良”这一术语来描述这种表征这种新的骨发育不良的不寻常组织学变化。

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