This is the most common rhizomelic dwarfism and is inherited in an autosomal dominant pattern . The most significant complication is b rai...
This is the most common rhizomelic dwarfism and is inherited in an autosomal dominant pattern. The most significant complication is brain stem/cord compression due to spinal stenosis caused by abnormal alignment and a congenitally narrow canal (short pedicles and a reduced inter-pedicular distance contribute to this).
SKULL X-RAY/HEAD CT
• Flat nasal bridge
• Broad mandible
• Large skull
• Frontal bossing
• Narrow, anteriorly displaced foramen magnum
• Hydrocephalus
CHEST X-RAY
• Decreased AP distance
• Short, anteriorly flared, concave ribs
PELVIS X-RAY
- Tombstone iliac bones from squaring
- Champagne glass pelvic inlet
- Horizontal acetabular roof
- Short sacrosciatic notches
- Horizontal sacrum
APPENDICULAR X-RAY
- Trident hand (divergent middle and ring fingers)
- Short femoral necks
- long fibula: the fibular head is at the level of the tibial plateau
- Patella baja
• Posterior vertebral body scalloping
• Anterior inferior beaking
• Bullet-shaped vertebrae
• Shortened pedicles
• Decreased inter-pedicular distance
Achondroplasia. Lateral thoracic spine x-rays (a) demonstrating posterior vertebral scalloping, anterior inferior beaking and shortened pedicles. (b) is the AP view showing decreased interpedicular distance, tombstone iliac bones and horizontal acetabular roofs.
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