Short Rib Polydactyly Syndrome

  • Etiology: Severe osteochondrodysplasia
  • Imaging Radiograph:
    — Short limbs
    — Short ribs with narrow thorax
    — Polydactyly
  • DDX:
  • Complications: Lethal skeletal dysplasia
  • Treatment: Supportive
  • Clinical:
    — Have short-limb skeletal dysplasia and short ribs causing a narrow thorax and polydactyly
    — Often have congenital cardiac anomalies and congenital renal anomalies

Radiology Cases of Short Rib Polydactyly Syndrome

CXR of short rib polydactaly syndrome
CXR AP (left) and lateral (center) show extremely short ribs resulting in a very small thorax and thus low lung volumes. AP radiograph of the upper extremity (right) shows a short humerus and an extra digit attached to the fifth digit.

Radiology Cases of Short Rib Polydactyly Syndrome Without Polydactaly

Radiographs of short rib polydactaly syndrome without polydactaly
CXR AP (above left) shows short ribs with a small bell-shaped chest. AP radiographs of the upper extremities (middle left and below left) show short tubular bones especially proximally. There is no polydactaly. Lateral radiograph of the spine (right) shows some flattening of the vertebral bodies.