Thanatophoric Dysplasia

  • Etiology: Congenital
  • Imaging Radiograph:
    — Type I: Short long bones, short ribs causing small thorax and pulmonary hypoplasia, platyspondyly, flat acetabular roof, long bone bowing with cupped flared metaphyses = telephone receiver femora and humeri, no cloverleaf skull
    — Type II: Cloverleaf skull, straight femora
  • DDX:
  • Complications: Respiratory arrest
  • Treatment: None
  • Clinical:
    — Most common lethal short-limb dysplasia
    — Extreme rhizomelic skeletal dysplasia
    — Lethal skeletal dysplasia

Radiology Cases of Thanatophoric Dysplasia

CXR of thanatophoric dysplasia
CXR AP shows narrow and short ribs, flattening of the vertebral bodies (platyspondyly) and telephone receiver deformity of the femurs.

Radiology Cases of Thanatophoric Dysplasia Causing Telephone Receiver Femurs

Pelvis radiograph of thanatophoric dysplasia
AP radiograph of the pelvis shows flattening of the vertebral bodies. The femora bilaterally have a telephone receiver appearance.