Congenital dislocation of the hip: a possible inborn error of collagen metabolism.
Significant changes in the type of collagen, the fibril diameter and the nature of the crosslinks have been demonstrated in the joint capsules of subjects with congenital displacement of the hip (CDH). These changes are probably tissue specific since no detectable change could be observed in the skin of these subjects compared to controls. These preliminary biochemical studies clearly demonstrate that CDH involves an error in collagen metabolism.
D002675:Child, Preschool; D003094:Collagen / Q000235:genetics / Q000378:metabolism*; D004591:Electrophoresis, Polyacrylamide Gel; D005838:Genotype; D006618:Hip Dislocation, Congenital / Q000235:genetics / Q000378:metabolism*; D006621:Hip Joint / Q000378:metabolism; D006801:Humans; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000235:genetics / Q000378:metabolism*; D008854:Microscopy, Electron; D012867:Skin / Q000378:metabolism
D003094:Collagen