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Updated: Aug 9, 2026

Culture of Murine Embryonic Metatarsals: A Physiological Model of Endochondral Ossification
Published on: December 3, 2016
[Schimke immuno-osseous dysplasia. A pediatric disease reaches adulthood]
Thomas Lücke1, Nele Kanzelmeyer, Doris Franke
1Kinderklinik Abteilung II, Medizinische Hochschule, 30625 Hannover. luecke.thomas@mh-hannover.de
Background:
Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive multisystemic disorder caused by mutations of the SMARCAL 1 gene (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1).
Clinical Features:
Main clinical features are: disproportional growth deficiency due to spondyloepiphyseal dysplasia, nephrotic syndrome with focal and segmental glomerulosclerosis, and defective cellular immunity. Patients with severe SIOD have life-limiting complications like cerebral ischemia due to vaso-occlusive processes. Only a few patients reached adulthood.
Case Reports:
The clinical course of four adult SIOD patients is presented.
Conclusion:
Even patients with severe SIOD can reach adulthood. Therefore, doctors working in the field of internal medicine and family doctors should be familiar with the clinical picture of SIOD.
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