Metaphyseal dysostosis. Review of literature; study of a case with cytogenetic analysis

The clinical, pathologic, and laboratory findings of a patient with severe metaphyseal dysostosis are described and the literature reacting to this disorder is reviewed. Chromosomal analysis suggests that some cells with trisomy for chromosome 16 may be present in this patient. Therapy with massive doses of vitamin D parenterally failed to influence the roentgenographic changes in the metaphyses.