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  • Title: Bone dysplasias: the A, B, C of radiographic interpretation.
    Author: Castriota-Scanderbeg A.
    Journal: J Endocrinol Invest; 2010 Jun; 33(6 Suppl):26-9. PubMed ID: 21057182.
    Abstract:
    The skeletal dysplasias are a group of genetic disorders affecting skeletal development and maintenance, usually manifesting in childhood with disproportionate short stature. Although individually rare, they are not infrequent as a group. An accurate diagnosis is crucial for prevention and/or treatment of complications, estimate of child's growth, and proper genetic counseling. Radiology is the mainstay of diagnosis. Recognition of single radiographic signs or patterns of anomalies is required to reach the correct diagnosis. The radiographic features of Leri-Weill syndrome and Langer mesomelic dwarfism, two skeletal dysplasias caused by a defect in the short stature homeobox-containing gene, are briefly discussed.
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