Cases reported "Achondroplasia"

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1/2. The absence of type II collagen and changes in proteoglycan structure of hyaline cartilage in a case of Langer-Saldino achondrogenesis.

    Structural analysis of hyaline cartilage extracellular matrix components from the ribs and knee joint of a stillborn female with type II achondrogenesis was carried out. The absence of type II collagen, a decrease in the amount of proteoglycans (PG), and structural changes in PG, namely, increased electrophoretic mobility of PG, lower relative content of chondroitin 4-sulfate (Ch4-S), lower molecular weight and decreased total chondroitin sulfate (ChS) sulfation, were detected. Increased amounts of type I and type III collagens, atypical for hyaline cartilage, were revealed. Among the link proteins (LPs), a large protein with a mol. wt. of 48 kDa was predominant. Molecular and cellular mechanisms of the pathogenesis of achondrogenesis ("chondrogenesis imperfecta") are discussed. The data obtained suggest that the primary defect in type II achondrogenesis involves ChS or type II collagen synthesis.
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2/2. Abnormal metacarpal heads in brachymesophalangy--report of a case and review of the literature.

    A case of brachymesophalangy in which ossicles related to metacarpal heads became detached, causing joint locking, is presented. A distinction has been made by arthrography between this lesion and the loose bodies seen in osteochondritis dissecans, which were previously thought to be the origin of the ossicles and the cause of the locking.
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