Hardouin P, Flautre B, Sutter B, Leclet H, Grardel B, Fauquert P
Institut de Recherche sur les Maladies du Squèlette, Institut Calot, Berck sur Mer, France.
Bone. 1994 Jan-Feb;15(1):81-3. doi: 10.1016/8756-3282(94)90895-8.
A new case of osteomesopyknosis, a rare autosomal dominant axial osteosclerosis is reported, with 4 affected members of the same family. Biochemical investigations, bone mineral content (BMC) measurement, 99mTc HMDP bone scan and microscopy of iliac crest bone and femoral head have been performed on 1 subject. A marked increase of BMC was found, without abnormality of biochemical data. Microscopy of bone showed an increase of trabecular thickness, and a low rate of bone turnover. No abnormality of mineralization was found on microradiographs.
报告了一例骨致密性骨发育异常（osteomesopyknosis）的新病例，这是一种罕见的常染色体显性轴向骨硬化症，同一家庭中有4名成员患病。对1名患者进行了生化检查、骨矿物质含量（BMC）测量、99mTc HMDP骨扫描以及髂嵴骨和股骨头的显微镜检查。发现BMC显著增加，生化数据无异常。骨显微镜检查显示小梁厚度增加，骨转换率低。微射线照片未发现矿化异常。
