The Skeletal Manifestations of the Congenital Disorders of Glycosylation

Clin Genet. 2008 Jun;73(6):507-15. doi: 10.1111/j.1399-0004.2008.01015.x. Epub 2008 May 6.


The congenital disorders of glycosylation (CDG) are a rapidly expanding disease group with protean presentations. Specific end-organ involvement leads to significant morbidity and mortality, and the skeletal manifestations are often not appreciated, apart from the common association of osteopaenia with CDG-Ia. We performed a literature review of all documented skeletal manifestations in reported CDG patients, revealing a diverse range of skeletal phenotypes. We discuss the possible underlying mechanisms of these skeletal manifestations observed in CDG that are important and frequently under-recognized.

Publication types

  • Review

MeSH terms

  • Bone Diseases, Metabolic / etiology*
  • Carbohydrate Metabolism, Inborn Errors
  • Congenital Disorders of Glycosylation / complications*
  • Glycosylation
  • Humans
  • Musculoskeletal System / physiopathology
  • Phenotype