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

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.