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

Skeletal Radiol. 1998 Jan;27(1):43-5. doi: 10.1007/s002560050335.


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.

Publication types

  • Case Reports

MeSH terms

  • Congenital Disorders of Glycosylation / complications*
  • Diagnosis, Differential
  • Dysostoses / diagnosis
  • Dysostoses / diagnostic imaging*
  • Dysostoses / etiology*
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Radiography