Biochemical and structural abnormalities of the connective tissue in Larsen's syndrome

Skin, iliac crest cartilage and tendon of a patient affected with Larsen's syndrome were subjected to biochemical and ultrastructural investigation. A substantial increase in the ratio of glucosamine to galactosamine was found both in skin and cartilage. Ultrastructural abnormalities of collagen fibres and proteoglycan filaments were also found in Larsen's tissues. The significance of these findings are discussed.