期刊
CLINICAL GENETICS
卷 73, 期 6, 页码 507-515出版社
WILEY
DOI: 10.1111/j.1399-0004.2008.01015.x
关键词
collagen; congenital disorder of glycosylation; osteopaenia; skeletal dysplasia
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.
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