Abnormality of cartilage collagen in a patient with unclassified chondrodystrophy

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Abstract
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 α 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 3α collagen. Cartilage extracted from structural rib appeared to be normal.