Kozlowski K, Masel J
Department of Radiology, Royal Alexandra Hospital for Children, Sydney, Australia.
Eur J Pediatr. 1999 Apr;158(4):308-11. doi: 10.1007/s004310051078.
We report a boy with a new form of mesomelic dysplasia characterised by short stature, multifocal periosteal thickening, radio-humeral dislocation, osteoporosis and multiple fractures with minimal trauma. Electrophoresis of fibroblast collagens detected defects in type III and type V collagen.
Bone dysplasias presenting with osteopenia, abnormal trabecular pattern, bone fragility, and periosteal thickening suggest a collagenopathy. A possible collagen defect requires biochemical investigations.
我们报告一名患有新型中肢发育不全的男孩，其特征为身材矮小、多灶性骨膜增厚、桡肱关节脱位、骨质疏松以及轻微创伤即可导致多发骨折。对成纤维细胞胶原蛋白进行电泳检测发现III型和V型胶原蛋白存在缺陷。
出现骨质减少、小梁模式异常、骨脆性增加和骨膜增厚的骨发育异常提示可能存在胶原病。可能的胶原蛋白缺陷需要进行生化检查。
