Schimke immuno-osseous dysplasia: case report and review.


We report on a patient with Schimke immunoosseous dysplasia, an autosomal recessive disorder, and review nine patients from the literature. Manifestations include spondyloepiphyseal dysplasia, lymphopenia, signs of defective cellular immunity, and progressive renal disease. This is the first patient known to have the additional findings of thrombocytopenia… (More)


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@article{Ludman1993SchimkeID, title={Schimke immuno-osseous dysplasia: case report and review.}, author={Mark David Ludman and Della Cole and John F. S. Crocker and Mitchell Cohen}, journal={American journal of medical genetics}, year={1993}, volume={47 5}, pages={793-6} }