Bone Abstracts

Proteoglycans are abundant and structurally complex bio macromolecules. They reside on the cell surface and are a major component of the extracellular matrix including bone. Defective formation of proteoglycans may case pleiotropic connective tissue syndromes including EDS-like and Larsen syndrome–like phenotypes.We report on a girl with disproportionate short stature and joint laxity with pes planus and radial head dislocation. She was previously a...

Background: Systemic alterations in Runx2 expression have been shown to affect flat and long bone formation differently: Inactivating mutations cause low-turnover bone disease and patent fontanels in cleidocranial dysplasia, while overexpressing mutations cause metaphyseal dysplasia with maxillary hypoplasia and brachydactyly. The two conditions have inverse skeletal phenotypes. We know of no descriptions of these disorders in a patient without duplications or mutations of Run...