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

The skeletal manifestations of the congenital disorders of glycosylation.

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Genetic Health Services Victoria, Melbourne, Australia.


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.

[Indexed for MEDLINE]

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