What Is Klippel-Feil Syndrome?

Cervical spine fusion syndrome is a congenital fusion of more than two segments of the cervical spine, also known as Klippel-Feil syndrome, short neck syndrome, cervical thoracic vertebral body congenital osseointegration syndrome, osteoid torticollis syndrome, natural cervical webbed syndrome . Clinically, it is characterized by a triad of short neck, low posterior hairline, and limited neck movement.

Basic Information

Visiting department: surgical
Multiple groups: female
Common locations: Cervical spine

Common causes: Autosomal dominant inheritance, low penetrance
Common symptoms: Short and thick neck, low back hairline, restricted neck movement, short neck deformity, cervical ribs, recessive spina bifida, nerve root or plexus deformity

Causes of cervical fusion syndrome in children

It is autosomal dominant, with low penetrance and various manifestations. Some types are autosomal recessive. Some people think that the symptoms are caused by dysfunction and inhibition of germ layer differentiation 3 to 8 weeks after embryo formation. In recent years, it has been found that cervical deformities are often associated with homeobox gene abnormalities. Sometimes several cases are found in the same family, and women are more common.

Clinical manifestations of cervical fusion syndrome in children

The neck is short and thick, the back hairline is flat, and the neck movement is limited, but not all children have the above characteristics.

Short neck

It is usually not obvious, but the neck is shorter than normal. The face is asymmetric, and the skin on both sides of the neck from the mastoid to the acromion is widened, showing a winged neck.

2. Low hairline after haircut

The post hairline was significantly lower than that of normal people.

3. Limited cervical spine

Due to the fusion of the vertebrae, the range of motion of the cervical spine is significantly limited, and the rotation and lateral curvature are particularly limited. Multi-segment and full-segment fusion activities are significantly limited, and single-segment and lower-segment fusion are less obvious.

4. Short neck deformity caused by upper cervical spine fusion

Occipital neck deformities are often associated with neurological symptoms in the early stages, which are manifested as spinal cord compression caused by instability of the occipital region.

5. Short-neck deformity caused by mid-low cervical fusion

Early without neurological symptoms. With the increase of age, the mobility of the upper and lower non-fused cervical segments of the fused vertebrae increases, and strain and degeneration also occur successively. Degenerative changes include bone hyperplasia at the posterior edge of the vertebral body, thickening and calcification of the ligament structure. The above pathological changes will lead to spinal stenosis, narrowing of the cervical spinal cord epidural buffer space, and neurological symptoms can be caused by minor trauma Therefore, almost all of these children have obvious neurological symptoms after minor trauma. Its clinical features are mild trauma and severe symptoms, which can cause quadriplegia.

6. Short neck deformity with cervical ribs, recessive spina bifida, nerve root or plexus distribution deformity

Arm pain, low back pain, and sciatica can occur. Patients with cardiac malformation and renal malformation will also have corresponding clinical symptoms. In addition, short neck deformities can be combined with scoliosis, high shoulder blades and webbed deformities.

Diagnosis of cervical fusion syndrome in children

According to the clinical manifestations of the disease, X-ray examination and CT examination are sufficient to confirm the diagnosis of short neck deformity. MRI can clearly show the fusion segments of cervical spine, and can determine the compression site and severity of the spinal cord, providing a reliable basis for the choice of treatment options. It is worth noting that in infants and young children, the vertebral body is not ossified and the vertebral body is fused. There is a zona pellucida similar to the intervertebral disc. Close observation will reveal that this zona pellucida is narrower than the normal intervertebral space. If the diagnosis is not clear, it is feasible to flexion and extension of the lateral cervical spine. No change.

Cervical fusion syndrome in children

The choice of short neck deformity treatment plan is mainly based on the number and location of deformed vertebral bodies and whether there are neurological symptoms.

1. Short-neck deformity caused by simple middle-lower cervical spine fusion, often without early neurological symptoms, no special treatment is required, but care should be taken to avoid excessive cervical spine movement, prevent trauma, and delay the process of cervical degeneration; it is feasible for those with an ugly neck appearance Bilateral neck skin "Z" angioplasty or bilateral sternocleidomastoid mastectomy improves appearance. Patients with spinal cord compression due to cervical spine stenosis due to cervical degeneration in the late stage can undergo anterior or posterior decompression according to the compression site of the spinal cord.

2. The short neck deformity caused by the fusion of the upper cervical spine, due to early neurological symptoms, should be paid great attention. For those without neurological symptoms, follow-up observation should be performed to prevent neck trauma, reduce neck movement or local cervical fixation. For those with neurological symptoms, corresponding decompression and stable surgery can be used.

3. Non-surgical spinal cord injury caused by short neck deformity but without bone injury should be treated with non-surgical treatment, such as skull traction or occipital jaw traction, and the head and neck and chest plaster should be fixed after the symptoms disappear; those with obvious fracture and dislocation, Then use skull traction to reduce it, and then choose a treatment plan based on the changes in neurological symptoms.

4. For short neck deformity combined with other abnormalities, such as: scoliosis, cardiac malformation, renal malformation and occipital and neck deformities, corresponding treatment should be given.