title: Mucopolysaccharides in osteochondrodysplasias.
abstract: Mucopolysaccharide (MPS) metabolism in cultured skin fibroblasts was studied in one case of each of the following osteochondrodysplasias: chondrodysplasia punctata of the rhizomelic type, thanatophoric dysplasia, campomelic dysplasia, and osteogenesis imperfecta congenita. Accumulation of both sulfated and non-sulfated MPS, as well as secretion of total MPS, was normal in chondrodysplasia punctata of the rhizomelic type and in thanatophoric dysplasia. Accumulation of both sulfated and non-sulfated MPS was normal in campomelic dysplasia. Lastly, accumulation of sulfated MPS was normal in osteogenesis imperfecta congenita.
mesh_terms: D002478:Cells, Cultured; D002806:Chondrodysplasia Punctata / Q000378:metabolism; D005347:Fibroblasts / Q000378:metabolism; D006025:Glycosaminoglycans / Q000378:metabolism*; D006801:Humans; D007223:Infant; D010009:Osteochondrodysplasias / Q000145:classification / Q000378:metabolism*
chemical_list: D006025:Glycosaminoglycans