Goldenhar syndrome is a hereditary disease of the oculoauriculovertebral region, that is, damage to structures originating from the first and second branchial arches. It was described in 1952 by the American physician Goldenhar. This is a hereditary disease in humans, in which unilateral hypoplasia of the face, abnormal auricles, eyelids, teeth, spine, etc. are most often pronounced.
Goldenhar Syndrome
Goldenhar syndrome was first described in the mid-twentieth century. But it was isolated in a separate disease a little later by an American doctor, by whose name he got his name. The frequency of development is 1: 3000-5000. Around the world, few cases of this disease are recorded.
Manifestations of the syndrome
Goldenhar syndrome manifests itself in the form of external abnormalities. With it, deformation of the auricles with characteristic outgrowths is observed. They can be flat or protruding, affect only one ear or break symmetry on both sides. Sometimes they connect to the corner of the mouth, as a result, the face takes on a warped look. The ears are most often severely deformed, sometimes there is a narrowing of the ear canal or the presence of fistulas.
Due to the underdevelopment of the lower jaw, the face is often asymmetrical. Various anomalies of the eyes and eyelids are possible. They can be affected by the syndrome unilaterally, but more often - on both sides. The spine with this disease is not always affected. But if nevertheless the anomalies touched him, then the cervical vertebrae fuse with the back of the head or with each other.
Cleft on the palate, the tongue bifurcates, and tooth growth is significantly impaired. Often, patients show mental retardation. Its degree may be different. But mental retardation still occurs in only ten percent of patients.
Causes of the disease
Goldenhar syndrome has not yet been adequately studied. But most scientists agree that genes are the cause of its appearance. In most cases, the nature of the disease is sporadic.
Why else can Goldenhar syndrome occur? The reasons may lie in the blood relationship of parents. But a large role in the onset of the syndrome can be played by previous abortions of the mother of the sick child or teratogenic factors that occurred in the early stages of pregnancy. In addition, the cause of the birth of a child with such a syndrome may well be obesity or diabetes in the mother.
Syndrome inheritance
Inheritance of Goldenhar syndrome is transmitted in an autosomal recessive or dominant manner. Rearrangements occur on some chromosomes. Sometimes, when the syndrome appears, mutations in the GSC gene are detected. If the mutation also affects the TCOF1 gene, then this leads to the development of additional Tricher-Collins syndrome.
Diagnosis of the syndrome
For the diagnosis of Goldenhar syndrome, many procedures are used. One of them is hearing research. This helps determine the degree of deafness on the affected side. This must be done as quickly as possible so that the child subsequently does not lag behind in psycho-speech development.
At an early age, auditory potentials, brain response, and modulated tones are tested in children. Examine the child during sleep. For older children, for the diagnosis of hearing, speech audiometry is used during the game. With this syndrome, hearing loss of varying degrees is usually detected. Hearing diagnosis should be done once every six months for seven years.
In addition to the above, computed tomography of the temporal zones is used, which is performed for children older than three years of age. A child with Goldenhar syndrome, the description of the pathologies of which is presented slightly above, should undergo a constant examination by doctors:
- cardiologist;
- speech therapist;
- genetics;
- surgeon
- orthopedist;
- defectologist;
- ophthalmologist;
- neuropathologist.
Goldenhar syndrome treatment
Due to the variety of facial and vertebral abnormalities when Goldenhar syndrome is detected, treatment is multidisciplinary. It is multi-stage and depends on the volume of pathologies. If the case is mild, then the child is monitored for only three years, and then begins orthodontic treatment and surgery. If the case of the disease is complex (cleft palate, defect in the jaw, and so on), then the treatment takes place according to another scheme. First, operations are performed - up to a maximum of two years of age. And only after that they carry out complex treatment.
Goldenhar syndrome (hemifacial microsomy) always requires surgical treatment. At the same time, several stages are distinguished:
- compression distraction osteogenesis;
- TMJ endoprosthetics;
- osteotomy of the lower and upper jaws;
- plastic surgery.
For the orthodontic stages, it is characteristic to prevent the development of various asymmetries of the jaw, eliminate malocclusion, prepare teeth and facial muscles for operations.
Goldenhar syndrome: orthodontic treatment
Orthodontic treatment is divided into three stages of occlusion:
- Dairy.
- Replaceable.
- Permanent.
The first stage is the most important. During it, parents are first informed of the vice, its severity and the possible subsequent risks and development of the disease. Mandatory rules for oral hygiene are reported, which the child must strictly observe. If the baby did not receive timely treatment immediately, then with age he may show underdevelopment of facial bones. Moreover, it will progress. An abnormal bite will become more noticeable over time. It will be more and more difficult for a child to swallow and chew. And as a result of these deteriorations - psychological trauma of parents and the child.
In the treatment at the first stage, removable elastic jaw and plate devices are used. This is the time when the main goal of doctors is to introduce the child to special devices, help him adapt and get used to their use. If the asymmetry is not initially expressed, then such devices have a warning character.
Second stage of treatment
The main tasks are to eliminate malocclusion. Correct irregular shapes and sizes of dentoalveolar arches. Work continues on the prevention and elimination of jaw malformation and its underdevelopment. For treatment, removable elastic plates are used. These devices serve as support and support for the jaws. Additionally used fixed frame.
Third stage
In the third stage, all of the above treatment continues. But they are starting to use already fixed braces. At the end of treatment, the retention period is used, during which the previously achieved results are consolidated. Non-removable wire retainers are used to fix the upper palate and teeth. For others, such devices are already invisible.
At the same time, the child receives a removable latch, which is used only during sleep. The retention period ends only when the child stops growing. During this time, periodic examinations are carried out. The child is under the vigilant control of doctors. If necessary, plastic surgery is done. Rehabilitation of a child ends only by the age of 18, that is, when his body is already fully formed.