Abnormality of cartilage collagen in a patient with unclassified chondrodystrophy

We have described a previously unrecognized chondrodystrophy characterized by short-limbed dwarfism, blue sclera, severe cardiopulmonary problems, and failure of postnatal growth. The first of two siblings thus affected died at age 6 months following attempted correction of an atrial septal defect. Growth plate cartilage from multiple sites obtained at autopsy showed a marked abnormality of architecture on the light microscopic level. Biochemical studies demonstrated an absence of normal alpha 1(II) collagen in costochondral junction growth plate cartilage and an appearance of the major collagen in a band which comigrates on sodium dodecyl sulfate-polyacrylamide gel electrophoresis with 3 alpha collagen. Cartilage extracted from structural rib appeared to be normal.