Thanatophoric Dysplasia

  • Etiology: congenital
  • Imaging:
    — 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
  • 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.