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  • Title: Two lethal chondrodysplasias with giant chondrocytes.
    Author: Yang SS, Roskamp J, Liu CT, Frates R, Singer DB.
    Journal: Am J Med Genet; 1983 Aug; 15(4):615-25. PubMed ID: 6614049.
    Abstract:
    Two infants, each with a different form of sporadic lethal chondrodysplasia, had multinucleated giant chondrocytes in resting cartilage. Both patients also had severe laryngeal stenosis and normal chromosomes. The radiographic abnormalities in one patient conformed to the recently delineated entity, atelosteogenesis (spondylohumerofemoral hypoplasia or giant cell chondrodysplasia); the other patient had an unclassified type of spondyloepiphyseal dysplasia. The findings in these two patients and the previously reported observations in spondylohumerofemoral dysplasia confirm that chondrocytic giant cells are a causally nonspecific phenomenon.
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