Atlantoaxial instability and cervical stenosis are very common in metatropic dysplasia. Flexion and extension X-rays of the neck should be performed at diagnosis and at periodic intervals thereafter. Further information can be obtained by means of an MRI scan, typically done with flexion and extension views as well. If cervical instability is progressive or symptomatic, surgical fusion with decompression may be necessary.
Kyphoscoliosis is commonly seen in early childhood. It is often severe and rapidly progressive. The spine should be imaged early and followed-up at regular intervals. Bracing may be of some benefit in younger children with smaller curves.
The timing of spinal decompression and fusion for scoliosis in metatropic dysplasia is dependent upon the severity of the curve, curve progression, age and risk of injury to the spinal cord. The status of the respiratory system may also dictate the timing of surgery, especially in the younger, more severely affected children
The limbs are short with significant joint contractures. Treatment is dictated by walking ability, amount of functional compromise and symptoms. Common problems include hip and knee flexion contractures and genu valgum. Some individuals can have ligamentous laxity.
In one study from our center, we found that 40% of our patients with metatropic dysplasia had a fracture, with 25% having two or more.