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  • Title: [The metabolic basis of generalized skeletal dysplasia (author's transl)].
    Author: Spranger J.
    Journal: Radiologe; 1976 Jul; 16(7):262-9. PubMed ID: 822473.
    Abstract:
    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.
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