title: Schimke immuno-osseous dysplasia: two cases.
abstract: We report two patients with Schimke immuno-osseous dysplasia (SIOD). SIOD is characterised by growth retardation, renal failure, spondylo-epiphyseal dysplasia, specific phenotype and defective cellular immunity. These two children demonstrated a bone dysplasia with characteristic radiographic appearances. We postulate that SIOD should be considered in all cases of growth failure with an unclassifiable bone dysplasia. Repeated urine tests for proteinuria could be helpful in reaching the correct diagnosis.
authors.affiliation: Department of Metabolic Diseases, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04730, Warsaw, Poland. atylki@czd.waw.pl
authors.forename: Anna
authors.initials: A
authors.lastname: Tylki-Szymańska
authors.forename: Antoni
authors.initials: A
authors.lastname: Pyrkosz
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Krajewska-Walasek
authors.forename: Jacek
authors.initials: J
authors.lastname: Michałkiewicz
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Kowalska
authors.forename: Dariusz
authors.initials: D
authors.lastname: Rokicki
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002675:Child, Preschool; D005260:Female; D006130:Growth Disorders / Q000150:complications / Q000175:diagnosis; D006801:Humans; D007154:Immune System Diseases / Q000150:complications / Q000175:diagnosis*; D007111:Immunity, Cellular / Q000502:physiology; D007223:Infant; D007676:Kidney Failure, Chronic / Q000150:complications / Q000175:diagnosis; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications / Q000000981:diagnostic imaging* / Q000276:immunology; D011379:Prognosis; D011859:Radiography; D018570:Risk Assessment; D013577:Syndrome