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Case Reports
. 1991 Jul;119(1 Pt 1):64-72.
doi: 10.1016/s0022-3476(05)81040-6.

Schimke immuno-osseous dysplasia: a newly recognized multisystem disease

J Spranger  1 , G K Hinkel, H Stöss, W Thoenes, D Wargowski, F Zepp
Affiliations
Case Reports

Schimke immuno-osseous dysplasia: a newly recognized multisystem disease

J Spranger et al. J Pediatr. 1991 Jul.

Abstract

On the basis of five cases personally observed and one previously reported, we describe a disorder characterized by skeletal dysplasia, rapidly progressive nephropathy, episodes of lymphopenia, and pigmentary skin changes. Defects of T-cell function were compatible with an autoimmune process. The disorder is probably of genetic origin and inherited as an autosomal recessive trait.

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  • Schimke immuno-osseous dysplasia.
    Gilchrist DM, Harley FL. Gilchrist DM, et al. J Pediatr. 1992 Mar;120(3):497. doi: 10.1016/s0022-3476(05)80933-3. J Pediatr. 1992. PMID: 1538308 No abstract available.

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