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Type I collagen
4%
24/641
Type II collagen
3%
19/641
Collagen oligomeric protein (COMP)
8%
50/641
Sulfate transport
6%
40/641
Fibroblast growth factor receptor 3
79%
504/641
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The radiograph shows the typical findings of achondroplasia. The defect is in fibroblast growth factor receptor 3. The pedicles narrow distally in the lumbar spine. The pelvis is low and broad with narrow sciatic notches and ping-pong paddle-shaped iliac wings. This is often called a champagne glass pelvis. Type I collagen abnormalities are typically found in osteogenesis imperfecta, and type II collagen defects are found in spondyloepiphyseal dysplasia and Kneist syndrome. COMP is defective in multiple epiphyseal dysplasia. Sulfate transport defects are seen in diastrophic dysplasia.
3.1
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