Hunter A G, Kozlowski K, Hochberger O
Division of Genetics, Children's Hospital of Eastern Ontario, Ottawa.
Can Assoc Radiol J. 1995 Jun;46(3):202-8.
To draw attention to metachondromatosis, which may be misdiagnosed as multiple osteochondromatosis, and to point out several findings that have not been emphasized in previous reports.
The authors reviewed the relevant clinical and detailed radiographic findings for five patients from different countries, who underwent imaging at various ages during childhood.
Deformities resembling exostoses and punctate calcification were distinctive and represent previously unemphasized features of vertebral involvement in metachondromatosis. Widespread metaphyseal changes were best seen in the femoral necks, which were broad and showed prominent cartilage columns in all of the patients. Flattening of the femoral heads was observed in three patients; in one of these the flattening progressed to epiphyseal necrosis and coxa magna. In one patient the hands and feet showed no enchondromatous involvement.
Metachondromatosis is a generalized bone dysplasia predominantly affecting the tubular bones and, to a lesser degree, flat bones and the vertebral column. Significant complications may include avascular necrosis of the femoral head and progressive deformity of the small joints due to expanding local exostoses. The typical involvement of the hands and the feet may not always be seen.
引起对可能被误诊为多发性骨软骨瘤病的软骨瘤病的关注，并指出一些在既往报告中未被强调的发现。
作者回顾了来自不同国家的5例患者的相关临床及详细影像学表现，这些患者在儿童时期的不同年龄段接受了影像学检查。
类似外生骨疣的畸形和点状钙化具有特征性，代表了软骨瘤病椎体受累的既往未被强调的特征。广泛的干骺端改变在股骨颈最为明显，所有患者的股骨颈均变宽且显示出明显的软骨柱。3例患者观察到股骨头扁平；其中1例扁平进展为骨骺坏死和髋关节增大。1例患者的手和足未出现内生软骨瘤受累。
软骨瘤病是一种全身性骨发育异常，主要影响管状骨，其次是扁骨和脊柱。显著的并发症可能包括股骨头缺血性坏死以及局部外生骨疣增大导致的小关节渐进性畸形。手和足的典型受累情况并非总能见到。
