fibrochondrogenesis
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Pathology
- characteristic morphology of the growth plate
- chondrocytes have a fibroblastic appearance
- regions of fibrous cartilage extracellular matrix
Genetics
- associated with defects in COL11A1
Clinical manifestations
- severe short-limbed skeletal dysplasia
- broad long-bone metaphyses
- pear-shaped vertebral bodies
- flat midface with a small nose
- anteverted nares
- significant shortening of all limb segments
- relatively normal hands & feet
- small bell-shaped thorax with a protuberant abdomen