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Schimke immuno-osseous dysplasia: case report and review
M D Ludman1, D E Cole, J F Crocker
1Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.
American Journal of Medical Genetics
|October 1, 1993
Abstract:
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 and microdontia.