Schimke immuno-osseous dysplasia: two cases.
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.
Tylki-Szymańska
Anna
A
Department of Metabolic Diseases, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04730, Warsaw, Poland. atylki@czd.waw.pl
Pyrkosz
Antoni
A
Krajewska-Walasek
Małgorzata
M
Michałkiewicz
Jacek
J
Kowalska
Aleksandra
A
Rokicki
Dariusz
D
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