Schimke immuno-osseous dysplasia: case report and review of 25 patients.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 10528861.
- Also identified by PMC identifier 1734237.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
Immuno-osseous dysplasia is characterised by spondyloepiphyseal dysplasia, lymphopenia with defective cellular immunity, and progressive renal disease. We describe a patient with a severe form of the disease, review the features of another 24 patients, and discuss the previous classification. The differences between the two groups are not striking, and although similarities are greater between affected sibs, the same diagnosis of Schimke immuno-osseous dysplasia should apply to them all. The aetiology and physiopathology of this rare osteochondrodysplasia of presumed autosomal recessive inheritance remain unknown.
Medical subject headings
- Bone and Bones
- Osteochondrodysplasias