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Cerebellar atrophy in Schimke-immuno-osseous dysplasia

✍ Scribed by Thomas Lücke; Johanna M. Clewing; Cornelius F. Boerkoel; Hans Hartmann; Anibh M. Das; Michael Knauth; Hartmut Becker; Frank Donnerstag


Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
228 KB
Volume
143A
Category
Article
ISSN
1552-4825

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Schimke immuno-osseous dysplasia is a rare autosomal recessive disorder that affects primarily bone, T lymphocytes, kidneys, and skin. The patients have a triangular face, broad nasal bridge, bulbous nose tip, small palpebral fissures, short neck, long upper lip, and low hairline. Dental abnormaliti