Chondroectodermal Dysplasia

  • Etiology: Mesomelic skeletal dysplasia
  • Imaging:
    — Short ribs with narrow thorax
    — Small and flared ilia
    — Triradiate acetabula
    — Polydactyly
    — Limbs are short especially forearm and lower leg
    — Bowing of humerus and femur
    — Hypoplasia of proximal tibial ossification center
    — Genu valgum
    — Short fibula
    — Carpal coalition
    — Short and broad middle phalanges and hypoplastic distal phalanges
  • DDX:
  • Complications:
  • Treatment:
  • Clinical:

Radiology Cases of Chondroectodermal Dysplasia

CXR of chondroectodermal dysplasia
CXR AP and lateral shows the ribs to be short and the thorax to be narrow.
Radiograph of hand in chondroectodermal dysplasia
AP radiograph of the hand shows polydactyly with fusion of the fifth and sixth metacarpals. The middle phalanges are short and broad and the distal phalanges are hypoplastic.