Schimke immuno-osseous dysplasia: two cases

Anna Tylki-Szymańska; Antoni Pyrkosz; Małgorzata Krajewska-Walasek; Jacek Michałkiewicz; Aleksandra Kowalska; Dariusz Rokicki

doi:10.1007/s00247-002-0852-y

Schimke immuno-osseous dysplasia: two cases

Pediatr Radiol. 2003 Mar;33(3):216-8. doi: 10.1007/s00247-002-0852-y. Epub 2002 Dec 10.

Authors

Anna Tylki-Szymańska¹, Antoni Pyrkosz, Małgorzata Krajewska-Walasek, Jacek Michałkiewicz, Aleksandra Kowalska, Dariusz Rokicki

Affiliation

¹ Department of Metabolic Diseases, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04730, Warsaw, Poland. atylki@czd.waw.pl

PMID: 12612825
DOI: 10.1007/s00247-002-0852-y

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / diagnosis*
Child, Preschool
Female
Growth Disorders / complications
Growth Disorders / diagnosis
Humans
Immune System Diseases / complications
Immune System Diseases / diagnosis*
Immunity, Cellular / physiology
Infant
Kidney Failure, Chronic / complications
Kidney Failure, Chronic / diagnosis
Male
Osteochondrodysplasias / complications
Osteochondrodysplasias / diagnostic imaging*
Osteochondrodysplasias / immunology
Prognosis
Radiography
Risk Assessment
Syndrome