Spondyloepiphyseal Dysplasia

• Etiology: Skeletal dysplasia mainly involving the spine and proximal epiphyses
• Imaging Radiograph Skull:
  — Large and dolicocephalic
• Imaging Radiograph Spine:
  — Decreased vertebral body height with anterior wedging and flattening (platyspondyly) leading to kyphoscoliosis and lumbar lordosis
  — Pear shaped vertebrae in congenital form related to lack of development of posterior vertebral bodies or heaped up vertebra in tarda form
  — Progressive narrowing of the distance between the pedicles descending through the lumbar spine (interpediculate narrowing)
  — Hypoplasia of odontoid leads to atlantoaxial dislocation
• Imaging Radiograph Pelvis:
  — Markedly delayed ossification of pubic bones and proximal femora
• Imaging Radiograph Tubular Bones:
  — Femoral heads often ossify from multiple centers causing development of progressive coxa vara with premature osteoarthritis
  — Femoral heads flattened with late epiphyseal development
  — Shortened femoral necks with small femoral heads appearing below level of greater trochanters
  — Long tubular bones have delayed epiphyseal ossification
  — Irregular epiphyses
  — Absent calcaneal and knee epiphysis at birth
  — Variable metaphyseal irregularity and flaring
• DDX:
• Complications:
• Treatment:
• Clinical:
  — Short trunk with mild limb shortening
  — Flat face, cleft palate
  — Short neck
  — Increased AP chest diameter
  — Joint restriction
  — Myopia and retinal detachment
  — Atlantoaxial instability
  — Coxa vara

Radiology Cases of Spondyloepiphyseal Dysplasia