Thanatophoric Dysplasia

  • Etiology: congenital
  • Imaging: pulmonary hypoplasia due to narrow and short ribs and flattened vertebrae / platyspondyly -> small thorax, long bone bowing with cupped flared metaphyses – “telephone receiver” femurs
  • Clinical: extreme rhizomelic dwarfism, lethal dwarf

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.