Abstract
The presence of widespread, often symmetric, skeletal abnormalities raises the possibility of a generalized skeletal dysplasia. Osteochondrodysplasias are structural or formative defects that continue to evolve after blastogenesis, i.e., approximately the 8th gestational week. At this time, the patterning of individual bones as organs, i.e., of the single constituents of the axial skeleton and limbs, is complete. Many genes involved in the early patterning and development of the skeleton are no longer expressed. On the other hand, defects of growth, maturation, and homeostasis may continue to manifest until adulthood and thereafter, producing abnormalities recognizable by the histologic study of chondroosseous tissue.
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Schumacher, R., Seaver, L.H., Spranger, J. (2010). Skeletal Dysplasias. In: Fetal Radiology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-03560-9_4
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DOI: https://doi.org/10.1007/978-3-642-03560-9_4
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