Schimke immuno-osseous dysplasia: case report and review

Am J Med Genet. 1993 Oct 1;47(5):793-6. doi: 10.1002/ajmg.1320470538.


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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child, Preschool
  • Female
  • Genes, Recessive
  • Humans
  • Immune System Diseases / genetics*
  • Kidney Diseases / genetics
  • Lymphopenia / genetics
  • Osteochondrodysplasias / genetics*
  • Thrombocytopenia / genetics
  • Tooth Abnormalities / genetics