[The metabolic basis of generalized skeletal dysplasia (author's transl)].
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.
D000328:Adult; D001848:Bone Diseases, Developmental / Q000209:etiology* / Q000378:metabolism; D001842:Bone and Bones / Q000378:metabolism; D002356:Cartilage / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D003094:Collagen / Q000378:metabolism; D006801:Humans; D007014:Hypophosphatasia / Q000150:complications; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008382:Marfan Syndrome / Q000378:metabolism; D008661:Metabolism, Inborn Errors / Q000150:complications*; D009083:Mucopolysaccharidoses / Q000150:complications; D010013:Osteogenesis Imperfecta / Q000209:etiology; D012886:Skull / Q000002:abnormalities
D003094:Collagen
Stoffwechselstörungen als Ursachen generalisierter Skeletdysplasien