The clinical phenotype of Schimke immunoosseous dysplasia (SID) is characterized by growth retardation, renal failure, recurrent infections, cerebral infarcts, and skin pigmentation beginning in childhood. We report here on a 4-year-old male child who had all characteristic symptoms of SID, and, in
✦ LIBER ✦
Mitochondrial Function in Schimke-Immunoosseous Dysplasia
✍ Scribed by Thomas Lücke; Jochen H. H. Ehrich; Anibh M. Das
- Publisher
- Springer
- Year
- 2005
- Tongue
- English
- Weight
- 63 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0885-7490
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Schimke immunoosseous dysplasia (SID) is an autosomal recessive spondyloepiphyseal dysplasia that was first described by Schimke et al. [1971: Lancet 2:1088-1089]. It is associated with premature arteriosclerosis and cerebral ischemia; however, the cerebral vascular abnormalities causing ischemia ha
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