Genetic Bone Disorders
A paediatric orthopaedic surgeon is examining a child with short stature as part of a teaching session. The child has rhizomelic limb shortening, a large head with frontal bossing, and a champagne-glass shaped pelvis on radiograph. The examiner discusses the approach to skeletal dysplasia classification and the specific features of common conditions. Regarding skeletal dysplasias:
Mark each as TRUE or FALSE
Achondroplasia is caused by a gain-of-function mutation in FGFR3 that inhibits chondrocyte prolifera...
Osteogenesis imperfecta results from defects in type I collagen (COL1A1/COL1A2); the classic triad i...
Osteopetrosis results from overactive osteoclasts causing excessively dense bones; mucopolysaccharid...
The mucopolysaccharidoses show dysostosis multiplex on radiograph including J-shaped sella, paddle-s...
Pattern recognition for skeletal dysplasias involves assessing bone density (osteopenic vs sclerosin...
Answer the questions to see explanations
Click T (True) or F (False) for each option