小児科と治療学
オープンアクセス

概要

The Skeletal Manifestations of Deranged Glycosylation

David Coman and Savarirayan R

The congenital disorders of glycosylation (CDG) are a rapidly expanding disease group with protean presentations in which the skeletal manifestations are often not appreciated. In this brief review we will discuss the skeletal manifestation of CDG patients, their potential clinical and functional impact on the CDG child and their family, and consider possible underlying mechanisms of these skeletal manifestations.

Molecular and functional insights into clinical disease phenotypes associated with a primary skeletal dysplasia phenotype eg. achondrogenesis type 1A, provides invaluable, mechanistic understanding to pathology in defects associated with primary and secondary glycan deficiencies.