Clinical and experimental study on skeletal dysplasias

（1）成骨不全患者骨干骨膜的形态学检查显示微血管系统缺损。毛细血管和小动脉内皮细胞肥大，基底膜缺损，平滑肌层增生，提示成骨骨膜存在循环障碍。（2）Coffin-Lowry综合征是一种骨骼发育异常疾病，临床和实验室研究表明，Coffin-Lowry综合征是一种焦磷酸钙结晶沉积病，并推测胶原和蛋白多糖代谢异常也可能是Coffin-Lowry综合征某些方面的原因。（3）基础研究。对软骨和骨的分化和生长的影响揭示了肌酸激酶亚单位和5-100蛋白可能在这些过程中起作用，特别是在软骨内骨化阶段。（4）体外培养的软骨细胞与羟基磷灰石结合后，可作为修复先天性假关节等大面积骨缺损的材料。（5）对测力板法测量幼儿站立位重心的准确性进行了研究。探讨骨骼发育不良儿童的跌倒倾向及异常站立姿势的原因是本研究的一部分。

(1)Morphological examination of the periosteum from the diaphyseal bone of osteogenesis imperfecta patients revealed defective microvascular system. Hypertrophic endothelial cells of capillary vessels and arterioles, defective basement membranes and multiplication smooth muscle layers suggested existence of circulatory deficiency in the osteogenic imperfecta periosteum.(2)Clinical and laboratory investigation of Coffin-Lowry syndrome, one of skeletal dysplasias, demonstrated that this disorder is a calcium pyrophosphate dehydrate crystal deposition disease, and it was postulated that a metabolic abnormality in collagen and proteoglycans might be also responsible for some aspects of the syndrome.(3)Basic studies. on differentiation and growth of cartilage and bone revealed creatine kinase subunits and 5-100 protein might play a role during those processes especially in the stage of endochondral ossification.(4)Cultured chondrocytes bound to hydroxyapatite was found to be experimentally useful material for repair of large bone defect such as congenital pseudarthrosis.(5)Investigation of accuracy in measuring the center of gravity in standing posture of small children was performed using force plate. It is a part of our study to clarify cause of falling down tendency and abnormal standing posture in children with skeletal dysplasias.