title: Biochemical abnormalities in connective tissue of osteodysplasty of Melnick-Needles and dyssegmental dwarfism.
abstract: 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.
mesh_terms: D001848:Bone Diseases, Developmental / Q000235:genetics / Q000378:metabolism*; D002648:Child; D003094:Collagen / Q000302:isolation & purification / Q000378:metabolism*; D003238:Connective Tissue / Q000378:metabolism*; D004392:Dwarfism / Q000378:metabolism*; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D006025:Glycosaminoglycans / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011487:Protein Conformation
chemical_list: D006025:Glycosaminoglycans; D003094:Collagen