Journal article

The skeletal manifestations of the congenital disorders of glycosylation

D Coman, M Irving, P Kannu, J Jaeken, R Savarirayan

CLINICAL GENETICS | WILEY | Published : 2008


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.