title: Schimke immuno-osseous dysplasia: case report and review.
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.
authors.affiliation: Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.
authors.forename: M D
authors.initials: MD
authors.lastname: Ludman
authors.forename: D E
authors.initials: DE
authors.lastname: Cole
authors.forename: J F
authors.initials: JF
authors.lastname: Crocker
authors.forename: M M
authors.initials: MM
authors.lastname: Cohen
mesh_terms: D002675:Child, Preschool; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007154:Immune System Diseases / Q000235:genetics*; D007674:Kidney Diseases / Q000235:genetics; D008231:Lymphopenia / Q000235:genetics; D010009:Osteochondrodysplasias / Q000235:genetics*; D013921:Thrombocytopenia / Q000235:genetics; D014071:Tooth Abnormalities / Q000235:genetics