Campomelic dwarfism

Campomelic dwarfism, also known as campomelic dysplasia, is a rare form of skeletal dysplasia.

Epidemiology

Campomelic dwarfism is rare with an estimated incidence of ~1:200,000 births.

Associations
  • genital malformations: may be present in ~66% of patients

Clinical presentation

Diagnosis is usually readily made at birth or with antenatal ultrasound. It is frequently associated a number of non-skeletal abnormalities including:

Pathology

Genetics

It is thought to result from a mutation in a gene located on chromosome 17 which encodes for a transcription factor named Sox9 . There may be an autosomal recessive inheritance .

Radiographic features

Antenatal ultrasound

Findings include:

  • lower extremity bowing: femoral/tibial bowing
  • reduced chest circumference: narrow fetal thorax
  • hypoplastic scapulae
Plain film

Plain films are all that is usually required to confirm the diagnosis.

  • chest
  • limbs
    • dislocated hip and knee joints
    • bowing of femur and tibia
    • hypoplastic fibula
  • pelvis
    • dysplastic acetabulum and iliac bones

Treatment and prognosis

Campomelic dysplasia is not compatible with long term survival and 97% of patients die within their first year due to respiratory insufficiency.

History and etymology

It is derived from the Greek "campo" (bent) and "melia" (limb).