Physical Characteristics of Campomelic Dysplasia

Campomelic Dysplasia is characterized by the bowing of the femur and tibia. Some individuals can have this condition without any appreciable bowing of the long bones but with other major features. These patients are referred to as having “acampomelic” camptomelic dysplasia. We will limit the following discussion to patients with classic Campomelic Dysplasia.

Campomelic Dysplasia can be a lethal condition. However, a proportion of Campomelic children can survive into adulthood. In the newborn period, respiratory distress may occur due to the lack of development of the cartilage rings that support the tracheobronchial tree. Although respiratory insufficiency may lead to hypoxic brain injury, in general patients with Campomelic Dysplasia have average intelligence.

Face and Skull:

• Long and narrow skull
• Prominent forehead
• Flat face with a depressed nasal bridge
• Micrognathism
• Possible cleft palate

Trunk, Chest and Spine:

• Short neck with redundant skin at the nape of the neck
• Small, narrow, and bell-shaped chest
• Eleven pairs of ribs
• Protuberant abdomen

Arms and legs:

• Anterior bowing of the femur and tibia.
• A deep subcutaneous dimple over the most prominent aspect of the tibia.
• Clubfeet, frequently present on both sides.

What are the x-ray characteristics?

The radiological features of Campomelic Dysplasia include bowing of the femur and tibia. Typically, patients exhibit delayed ossification of distal femoral and proximal tibial epiphyses. Radial heads are dislocated. Widely spaced vertical ischia and a hypoplastic pubic bone are seen in the pelvis. Vertebral pedicles are hypoplastic or nonmineralized. Cervical vertebrae are hypoplastic. The thorax is small and bell-shaped, with eleven ribs, appearing wavy and thin. The first metacarpals are short. Short middle phalanges of the second through fifth fingers are also typical (4).