Achondroplasia

  • Etiology: congenital defect in enchondral bone formation (bone lengthening)
  • Imaging: flared iliac wings, champagne glass pelvis, trident pelvis, trident hand, progressive interpedicular distance narrowing at lower lumbar vertebrae, pedicles are short leading to spinal stenosis, posterior scalloping of vertebral bodies, anterior beaking of vertebral bodies, long bones short + flared, brachycephaly, frontal bossing, small face bones due to dysplastic skull bone, , normal cranium, keyhole foramen magnum, constricted jugular foramina causing intracranial venous hypertension + communicating hydrocephalus, prominent emissary veins as collaterals
  • Clinical: rhizomelic dwarfism, most common dwarf

Cases of Achondroplasia