Familial cervical dysplasia is a condition which is passed in autosomal dominant mode. It was described by Saltzman, Hensinger,Phillips & Blane. The condition affects the first cervical vertebra.
They described nine of twelve family members from three generations who were affected by an inherited form of cervical vertebral dysplasia that affected first cervical vertebra. Some also had defects of the axis and caudad to it. The mode of transmission of the disorder is autosomal dominant, with apparently complete penetrance and variable expressivity.
Most of the patients of familial cervical dysplasia are aymptomatic. The symptoms may vary from an incidental finding on radiographic examination to a passively correctable head tilt.
There may be suboccipital headaches or limitation of cervical motion may occur.
On xrays abnormalities of atlas are noted. These are
- Hypertrophy of anterior arch
- Bilateral enlargement of lateral masses
- Ossification of posterior tubercle
- Total absence of posterior arch
CT scan and three-dimensional reconstructions help to understand the anatomy better.
MRI is useful in identifying the potential for neurological compromise and to determine whether the patient needs surgical or should be managed non operatively. A magnetic resonance image of the spine in flexion and extension can be valuable for identification of impending damage to the cord in patients who had instability and evolving symptoms.
Most of the asymptomatic patients of familial cervical dysplasia do not require any treatment or can be treated with conservative means.
If surgery is required for stabilization, an occiput-to-C2 fusion usually is needed.
Patients who have recognized abnormalities should be followed and should be re-examined whenever local or neurological symptoms develop.
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