What are the physical characteristics of Ellis-Van Creveld Dysplasia?

Face and Skull:

• Dental abnormalities: natal teeth, partial or pseudocleft in the middle upper lip, small teeth, and delayed eruption

Trunk, Chest and Spine:

• No significant trunk abnormalities
• No spinal malformation
• Occasional short thorax at birth
• Short and narrow rib cage

Arms and legs:

• Mesomelic shortening of the lower limbs
• Knock-knees
• Polydactyly of the fingers
• Short and stubby hands
• Hypoplastic toenails and fingernails

What are the x-ray characteristics?

The radiographic features of EVC patients include progressive distal shortening of the long bones, with metaphyseal broadening. In infancy, pelvic dysplasia is common, along with low iliac wings and downward projections at the medial and lateral aspects of the acetabula. Pelvis configuration will normalize by childhood. Delayed ossification of the upper lateral portions of the proximal tibia will cause knock-knee. In young childhood, the epiphyseal ossification center is adjacent to the middle portion of the tibial metaphysis. Hypoplasia of the lateral epiphyses also occurs. The carpals are malformed, with fusion of the capitate and hamate. The middle phalanges are short and broad; hypoplasia of the distal phalanges is typical.

• What are the physical characteristics of Ellis-Van Creveld Dysplasia?
• How is the diagnosis made?
• Problems in the musculoskeletal system
• Problems elsewhere in the body
• What are things to watch out for?
• References