Short Neck Syndrome

The medicine knows a rare pathology, called short-neck syndrome or Klippel-Feil syndrome.

This article will give an idea of this disease and answer a number of questions.

[1], [2], [3]

Causes of the short neck syndrome

Established to date, the causes of the syndrome of short neck doctors are called:

1. Genetic defect of the chromosome (change in 8, 5 and / or 12 chromosomes), the child receives in the womb of the mother. This pathology occurs as early as the eighth week of pregnancy. Medicine distinguishes two types of inheritance of the syndrome of the short neck: autosomal dominant (occurs more often) and autosomal recessive.
2. Injury of the spine.
3. Birth injury.

[4], [5], [6]

Pathogenesis

The short neck syndrome also has another medical name - Klippel-Fail syndrome. The essence of the pathogenesis of this disease is an abnormal fusion between the vertebrae of the neck and / or vertebrae of the upper thorax.

[7], [8], [9], [10], [11], [12], [13]

Symptoms of the short neck syndrome

The Klippel-File syndrome can easily be recognized even by a person far from medicine. Symptoms of short neck syndrome are as follows:

1. The neck is deformed.
2. Movement is limited.
3. Visually, the head grows directly from the shoulders (brevicollis).
4. The low boundary of the beginning of the scalp on the head.

There may be other rare signs:

1. Asymmetry of the face.
2. Scoliosis.
3. The skin of the neck is wrinkled.
4. Hearing loss.
5. Splitting of the sky ("wolf mouth").
6. Decreased muscle tone.
7. Overexertion of the muscles of the cervico-occipital region.
8. The blades are located above the normal position.
9. Full or partial paralysis of muscles.
10. Curvature of the neck.
11. Pain in the cervical spine.
12. Wings on the neck.
13. Nervous-mental disorders (sleep disorders) ..

It is not difficult to notice the first signs of an anomaly. Visually there is no neck, cheeks "lie" just on the shoulders. It is often combined with Sprengel's disease.

During or after childbirth, an obstetrician-gynecologist who takes birth, or a neonatal doctor examining a child, can immediately recognize the presence of a short-necked infant in a newborn.

Complications and consequences

The consequence of this defect may be destruction of the bone tissue of the cervical region, the appearance of severe pain symptoms. There is a clamping or damage to the nerve roots and blood vessels, which causes the appearance of various neuralgic problems and leads to oxygen starvation of brain cells. The consequences of short neck syndrome may also appear in impaired vision or worsening of hearing.

Complications of short neck syndrome are:

1. Scoliosis.
2. Deafness.
3. Ophthalmic problems.
4. Anomaly of development of the lower and upper extremities: deformation of the foot, absence of the ulnar bone, development of an additional phalanx and so on.
5. Malformations of the development of internal organs that can lead to death: heart disease, kidney and / or liver pathology.
6. Violation of the central and peripheral nervous system.

[14], [15], [16], [17], [18], [19]

Diagnostics of the short neck syndrome

The neonatologist, even at the first examination of a newborn, is able to assume the presence of an anomaly. Diagnosis of the syndrome of short neck is to conduct and analyze the results of a number of activities:

1. Detection of anamnesis of the disease, whether there is a similar anomaly in someone from the family.
2. An examination by a neuropathologist: the presence of a curvature of the neck, the level of its mobility, the analysis of other symptoms.
3. Genetic research.
4. It is possible to consult a geneticist, a neurosurgeon.

Instrumental diagnostics

To establish a complete clinical picture of changes in the patient's body, instrumental diagnostics is carried out, which includes:

1. Radiography of the cervical and upper thoracic spine in a straight position.
2. Radiography of the same area, but with a maximally curved neck and maximally curved (spondylography).
3. Ultrasound of internal organs:
   • Hearts - a defect of the interventricular septum is possible.
   • Kidneys - there may be a lack of one of the paired organs.
4. ECG.

[20], [21], [22], [23]

Differential diagnosis

The doctor conducts differential diagnosis of the anomaly, excluding the disease, the symptom of which may be short neck syndrome, but not invested in the clinical picture, the results of the analyzes and studies.

The syndrome of Klippel-Feil differentiates with such pathologies:

1. The fissure of two or more vertebrae of the neck.
2. Anatomically small size of the vertebrae of the neck.
3. Absence of one or more vertebrae of the neck.
4. Combination of forms of features.

[24], [25], [26], [27], [28]

Treatment of the short neck syndrome

The treatment of short neck syndrome usually involves a doctor - an osteopath. When diagnosing an anomaly in the development of the cervical vertebrae, non-surgical methods of therapy are ineffective, but the complex treatment still includes:

1. To eliminate pain, one of the drugs with analgesic characteristics is prescribed.
2. Symptomatic medical treatment.
3. Physiotherapy, which helps improve the mobility of the affected area of the spine and increase muscle tone.
4. Massage.
5. Prophylactic or corrective wearing of a special collar (collar of Shantz).
6. Physiotherapeutic procedures (electrophoresis, paraffin heating).

But the main and most effective method of treating short neck syndrome is surgical intervention. In the arsenal of the surgeon there is a technique for correcting anomalies - cervicalization according to Bonol.

The essence of the treatment of short neck syndrome is to prevent the destruction of the cervical vertebrae and the subsequent development of secondary, sometimes irreversible, disturbances in the human body.

Physiotherapeutic treatment

The appointment of a physiotherapeutic treatment certainly will not relieve the patient of short neck syndrome, but will help improve her mobility, will help to activate blood circulation in this zone. Electrophoresis has a neuro-reflex and humoral effect on the affected area.

The essence of the procedure consists in carrying to the affected area of the body with the help of small electric currents of the drug ions, which impregnate the electrode pads. Penetrating into each cell, the medicine begins to act on the biochemical processes taking place in the body. Depending on the pharmacological group to which the drug belongs, anesthesia, removal of the inflammatory process and tension in the muscles occurs.

Applications from paraffin warm up the neck, activating the bloodstream, which improves metabolism in the structures of the brain. Such compresses, according to the doctor's prescription, can be carried out at home:

1. From the oilcloth to make a template for applying hot paraffin. It should cover the collar and neck area.
2. Warm the pan in the oven. Get out and on its surface to expand the template.
3. In a container in a water bath, preheat the paraffin and apply to the prepared pattern. The resulting paraffin collar is applied to the neck and collar zone of the patient, covered with a woolen shawl or a blanket.
4. The procedure takes from half an hour to an hour, depending on the doctor's recommendation.

Operative treatment

The main and most effective method of correcting violations of the anatomy of the cervical vertebrae is the operative treatment of the short neck syndrome - cervicalization according to Bonol.

When performing this operation, the surgeon removes I-IV ribs, in some cases, the periosteum. The operation is performed under general anesthesia. The specialist performs a paravertebral incision, passing in the interval between the inner edge of the scapula and the spinous process of the spine. On the side of the scapula, the rhomboid and trapezoidal muscles are cut off and the upper I-IV is resected. First, such actions are carried out on one side of the spine, then on the other.

Place the surgical intervention at the time of healing is placed in a plaster corset. As he heals, he is changed to a special collar - the head-holder.

Prevention

The prevention of short neck syndrome is impossible due to heredity of pathology. The only recommendation that a doctor can give - if the family has relatives who suffer from this anomaly - is a medical and genetic examination of the couple planning to have a baby. This will allow us to estimate in advance the level of risk of the birth of a child with the Klippel-Feil syndrome.

[29], [30], [31], [32], [33]

Forecast

If the syndrome of the short neck is not accompanied by malformations of internal organs, the prognosis is favorable. If the changes affected the organs and systems of the body, then the further condition of the patient's body depends on the severity of the concomitant diseases.

[34], [35],