A heritable disorder of connective tissue. Hydroxylysine-deficient collagen disease.

Amino Acid Metabolism, Inborn Errors/genetics,metabolism Amino Acids/analysis Bone and Bones/analysis Cartilage/analysis Child Collagen/analysis,metabolism Collagen Diseases/genetics,metabolism Fascia/analysis Female Humans Hydroxylation Hydroxylysine/analysis,urine Hydroxyproline/urine Lysine Microscopy, Electron Pedigree Scoliosis/genetics Skin/analysis,pathology Skin Diseases/genetics Solubility X-Ray Diffraction

Amino Acids Hydroxylysine Collagen Lysine Hydroxyproline