Two cases report of Schimke immuno-osseous dysplasia.
2010
Objective To improve the knowledge of Schimke immuno-osseous dysplasia (SIOD), two patients were reported. Methods In Aug. and Dec. 2008,the clinical characteristics and laboratory investigations of the 2 patients in Captial institute of pediatrics were summarized, and the relevant literature about SIOD was reviewed. Results The two patients presented with steroid-resistant nephrotic syndrome (FSGS), spondylo-epiphyseal dysplasia, T-cell deficiency, and an unusual facies. The diagnosis of the 2 patients was SIOD. Conclusion SIOD should be suspected if the patients present with steroid-resistant nephrotic syndrome combined with facial dysmorphisms, short stature and lymphopenia.
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