Congenital fusion deformity of the cervical spine

Introduction to cervical congenital malformation The congenital fusion of the cervical spine (also known as Klippel-Feil syndrome) reported by Klippel and Feil as early as 1912 consists of three clinical features: short neck, low posterior line and limited cervical vertebra activity. Need to be treated when symptoms occur. Such patients are often accompanied by other deformities. basic knowledge The proportion of illness: 0.004% Susceptible people: seen in young children Mode of transmission: mother-to-child transmission Complications: acute cervical disc herniation, cervical spondylosis

Cervical congenital fusion malformation etiology

Causes:

The cause is unknown.

Pathogenesis

Like other congenital malformations, the etiology of this disease is still unclear, and it is related to various factors in the embryonic period, especially viral infection, which is one of the main causes of various malformations. Genetic factors are still difficult to confirm, in clinical practice. Rarely familial trends.

Cervical congenital fusion malformation prevention

Patients with poor appearance of cervical spine malformation have a better prognosis and generally no adverse reactions; those with spinal stenosis or spinal cord compression have different prognosis depending on the degree of spinal cord involvement.

Cervical congenital fusion malformation complications Complications Acute cervical disc herniation Cervical spondylosis

The disease is easy to be complicated by acute cervical disc herniation or cervical spondylosis.

Cervical congenital fusion malformation symptoms common symptoms short neck and neck activity restricted triad

1. Short neck: The length of the neck of the patient is obviously shorter than that of the normal person, especially those with short stature (five short stature) or slightly fat.

2. Restricted neck activity: The limited range of activity is proportional to the length of cervical vertebrae fusion. The general case is only mildly limited. This is mainly due to the cervical vertebrae and the compensatory ability of unfused vertebrae. Stronger, the flexion and extension movements are generally less affected, while the lateral bending and rotation activities are slightly affected.

3. The lower hairline is lower: This is mainly caused by the short neck. It should be observed, otherwise it is not easy to find.

The above typical symptoms are also called "triple syndrome", only half of them appear, and most of the other cases are atypical, especially in cases with less vertebral segments.

In addition, these patients are often accompanied by other congenital malformations, of which high scapula is more common, accounting for about 1/3; followed by facial and upper limb malformations, accounting for about 1/4; may also be accompanied by limb bones Malformations such as hypoplasia and torticollis.

Due to the short neck deformity, kyphosis and/or scoliosis of the cervical and thoracic spine may be secondary, and thus affect the development of the chest.

For such cases, attention should be paid to the presence of visceral malformations, especially the urinary system (up to 1/3 of abnormal kidneys) and the cardiovascular system.

Cervical congenital fusion deformity examination

1. X-ray changes: The location and morphology of the congenital fusion malformation of the cervical vertebra can be found on the normal and lateral X-ray films of the cervical spine. Among them, the double-vertebral fusion is more common, and the three or more are rare. In the cervical segment, semi-vertebral malformations are rare (more common in the chest, lumbar vertebrae), according to the needs of the disease, can still add left, right oblique and dynamic lateral slices to comprehensively observe the extent of the vertebral deformity and the vertebral Stability between.

2. Others: For patients with spinal cord symptoms, MRI can be performed. For patients with spinal stenosis and neurological symptoms, CT or myelography can also be performed to determine spinal cord status and spinal cord involvement.

Diagnosis and differentiation of cervical congenital fusion malformation

The diagnosis of this disease is generally no difficulty, the main basis is:

1. Congenital: that is, abnormalities appear after birth.

2. Neck deformity: mainly short neck deformity, more than 80% of cases can be clinically determined; pay attention to observe the scalp hairline height and cervical spine activity limitation, and check the body for other malformations.

3. Imaging examination: The vast majority of cases can be confirmed by X-ray film.

The disease needs to be differentiated from other chronic conditions in the neck.

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