Schimke immuno-osseous dysplasia: case report and review of 25 patients.

  title={Schimke immuno-osseous dysplasia: case report and review of 25 patients.},
  author={Jorge Manuel Tavares Lopes de Andrade Saraiva and Alexandra Dinis and Cristina Resende and Em{\'i}lia Faria and Clara Gomes and Ant{\'o}nio Jorge Correia and Justyna Gil and N da Fonseca},
  journal={Journal of medical genetics},
  volume={36 10},
Immuno-osseous dysplasia is characterised by spondyloepiphyseal dysplasia, lymphopenia with defective cellular immunity, and progressive renal disease. We describe a patient with a severe form of the disease, review the features of another 24 patients, and discuss the previous classification. The differences between the two groups are not striking, and although similarities are greater between affected sibs, the same diagnosis of Schimke immuno-osseous dysplasia should apply to them all. The… CONTINUE READING
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