Kovacs C S, Lambert R G, Lavoie G J, Siminoski K
Department of Medicine, University of Alberta, Edmonton, Canada.
Skeletal Radiol. 1995 Jan;24(1):27-9. doi: 10.1007/BF02425942.
A previously unreported pattern of bone involvement in autosomal dominant osteopetrosis is described in three affected members of a Vietnamese kindred. The hands, feet, distal bones, and skull were markedly osteosclerotic on radiologic examination. The vertebrae displayed very minimal thickening of the endplates in two of the cases, and no visible involvement in the third. The vertebral bone density (assessed by dual-energy X-ray absorptiometry) was markedly elevated, suggesting that the spine was not completely spared. This pattern contrasts with the predominantly axial distribution of the recognized variants of osteopetrosis.
在一个越南家族的三名患病成员中,描述了一种常染色体显性骨硬化症中以前未报告的骨骼受累模式。手部、足部、远端骨骼和颅骨在放射学检查中显示明显骨硬化。在其中两例中,椎体终板显示非常轻微的增厚,第三例未见明显受累。椎体骨密度(通过双能X线吸收法评估)明显升高,表明脊柱并未完全幸免。这种模式与公认的骨硬化症变体主要累及中轴骨骼的情况形成对比。