Paediatric Imaging

Campomelic dysplasia

congenital bone dysplasia which has autosomal recessive inheritance. The clinical hallmark is bowing of the lower limbs, recognisable at birth. The tibia may have skin dimples over the mid shafts. Affected infants may have a large head, micrognathia and cleft palate. The condition is usually fatal in early infancy. Multiple varieties are described.

The radiological manifestations are:

  • Skull: doliocephaly and micrognathia

  • Thorax: bell-shaped thorax with deficient sternal ossification and hypoplastic scapulae

  • Spine: poorly ossified pedicles, hypoplastic vertebral bodies.

  • Pelvis: narrow iliac bones which are vertically orientated, hypoplasia of the pubic bones.

  • Long bones: bowing of the femora and tibia (Fig.1). Talipes is associated.

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    Fig.1

    Radiograph of an aborted fetus with campomelic dysplasia. Note bowing of the femora, which is the typical feature.
    Campomelic dysplasia, Fig.1