Biochemical abnormalities in connective tissue of osteodysplasty of Melnick-Needles and dyssegmental dwarfism

Biochemical findings in the connective tissue of two rare genetic skeletal dysplasias are reported. Osteodysplasty of Melnick-Needles showed an increased content of collagen; its increased synthesis may be the expression of the sclerosing process. In the neonatally lethal dyssegmental dwarfism, abnormal gel electrophoretic patterns of collagen peptides were found. These point to a deficiency in alpha 1-chains which may be the cause of an increase in cross-linking with a change in cleavage and extractibility of collagen.