Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia).
We report a 3-year-old girl with the association of spondyloepiphyseal dysplasia, nephrotic syndrome, and signs of defective cellular immunity. The findings are similar to those reported by Spranger et al., which have become known as Schimke immunoosseous dysplasia.
Rottenberg
G T
GT
Department of Radiology, Great Ormond Street Hospital for Children NHS Trust, London, U.K.
Shaw
D G
DG
Hall
C M
CM
D002675:Child, Preschool; D005260:Female; D006130:Growth Disorders / Q000209:etiology; D006801:Humans; D007111:Immunity, Cellular; D007153:Immunologic Deficiency Syndromes / Q000150:complications; D009404:Nephrotic Syndrome / Q000150:complications* / Q000276:immunology; D010009:Osteochondrodysplasias / Q000150:complications* / Q000000981:diagnostic imaging / Q000276:immunology; D011859:Radiography