Spranger J
Radiologe. 1976 Jul;16(7):262-9.
Numerous control systems are involved in the growth and differentiation of chondro-osseous tissue. Theoretically, the failure of each single step will result in a peculiar skeletal dysplasia. The resulting disorders are caused by errors in the metabolism of collagen, minerals, complex carbohydrates and the protein of the ground substance. Skeletal dysplasias with a known or probable metabolic base include osteogenesis imperfecta, osteoectasia with macrocranium, Menkes syndrome, the mucopolysaccharidoses and hypophosphatasia.
许多控制系统参与软骨骨组织的生长和分化。从理论上讲,每一个步骤的失败都会导致一种特殊的骨骼发育异常。由此产生的疾病是由胶原蛋白、矿物质、复合碳水化合物和基质蛋白代谢错误引起的。具有已知或可能代谢基础的骨骼发育异常包括成骨不全、巨头性骨扩张症、门克斯综合征、黏多糖贮积症和低磷酸酯酶症。