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Skeletal Radiol. 1998 Jan;27(1):43-5.

Carbohydrate-deficient glycoprotein syndrome type I: a new cause of dysostosis multiplex.

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Department of Radiology, Robert Debré Hospital, Paris, France.


We report on a 1-year-old boy, with carbohydrate-deficient glycoprotein (CDG) syndrome type I due to phosphomannomutase deficiency. Radiologic examination of the skeleton revealed previously unreported bone abnormalities that could be included in a dysostosis multiplex: wide ribs, squared iliac wings, horizontal acetabular roofs, widening and modeling abnormalities of ischial and pubic bones, dorsolumbar kyphosis, and slight hook-like dysplasia of the first lumbar vertebrae. Wormian bones were also present. We suggest that these features may be due to hypoglycosylation of bone proteins and that CDG syndrome type I should be included in the differential diagnosis of dysostosis multiplex.

[Indexed for MEDLINE]

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