title: The skeletal manifestations of the congenital disorders of glycosylation.
abstract: 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.
authors.affiliation: Genetic Health Services Victoria, Melbourne, Australia.
authors.forename: D
authors.initials: D
authors.lastname: Coman
authors.forename: M
authors.initials: M
authors.lastname: Irving
authors.forename: P
authors.initials: P
authors.lastname: Kannu
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
authors.forename: R
authors.initials: R
authors.lastname: Savarirayan
mesh_terms: D001851:Bone Diseases, Metabolic / Q000209:etiology*; D002239:Carbohydrate Metabolism, Inborn Errors; D018981:Congenital Disorders of Glycosylation / Q000150:complications*; D006031:Glycosylation; D006801:Humans; D009141:Musculoskeletal System / Q000503:physiopathology; D010641:Phenotype