Journal article
Schimke immunoosseous dysplasia complicated by moyamoya phenomenon
Abstract
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 have not been described [Spranger et al., 1991: J Pediatr 119:64-72; Ehrich et al., 1995: Clin Nephrol 43:89-95]. Based on magnetic resonance …
Authors
Boerkoel CF; Nowaczyk MJM; Blaser SI; Meschino WS; Weksberg R
Journal
American Journal of Medical Genetics, Vol. 78, No. 2, pp. 118–122
Publisher
Wiley
Publication Date
June 30, 1998
DOI
10.1002/(sici)1096-8628(19980630)78:2<118::aid-ajmg4>3.0.co;2-k
ISSN
0148-7299