Thus, we hypothesize that variable defects of cartilage extracellular matrix can result in similar abnormal patellar ossifications, and emphasize the importance of a lateral knee radiograph in patients with the pseudoachondroplasia-MED bone dysplasia group of disorders.
Here we review and discuss in vitro and in vivo PSACH and MED model systems and describe two transgenic mouse lines expressing human mutant TSP-5 protein.
Mutations in the COMP gene cause two dominantly inherited skeletal dysplasias, pseudoachondroplasia (PSACH) and Multiple Epiphyseal Dysplasia (MED/EDM1).
The identification of this mutation demonstrates that the spectrum of manifestations from mild MED through pseudoachondroplasia can all be produced by structural mutations in COMP.