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Schimke immunoosseous dysplasia: defining skeletal features

✍ Scribed by Kshamta B. Hunter; Thomas Lücke; Jürgen Spranger; Sarah F. Smithson; Harika Alpay; Jean-Luc André; Yumi Asakura; Radovan Bogdanovic; Dominique Bonneau; Robyn Cairns; Karlien Cransberg; Stefan Fründ; Helen Fryssira; David Goodman; Knut Helmke; Barbara Hinkelmann; Guiliana Lama; Petra Lamfers; Chantal Loirat; Silvia Majore; Christy Mayfield; Bertram F. Pontz; Cristina Rusu; Jorge M. Saraiva; Beate Schmidt; Lawrence Shoemaker; Sabine Sigaudy; Natasa Stajic; Doris Taha; Cornelius F. Boerkoel

Publisher
Springer
Year
2009
Tongue
English
Weight
909 KB
Volume
169
Category
Article
ISSN
0340-6997

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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