ISSN:
1432-2161
Keywords:
Key words Carbohydrate-deficient glycoprotein syndrome type I Dysostosis multiplex
;
Bone Phosphomannomutase deficiency
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract 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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s002560050335
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