The skeletal manifestations of the congenital disorders of glycosylation.

Abstract excerpt

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,...

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