Goldenenhar syndrome: description, causes, symptoms, inheritance and treatment
Goldenens syndrome is a hereditary disease of the oculoauriculovertebral region, that is, the destruction of structures originating from the first and second branchial arches. It was described in 1952 by the American physician Goldenhar. This is a hereditary human disease in which one-sided hypoplasia of the face is most often manifested, abnormal auricles, eyelids, teeth, spine, etc.
Goldenhar syndrome was first described in the middle of the twentieth century. But isolated in a separate disease a little later by an American doctor, whose surname also got its name. The frequency of development is 1: 3000-5000.There are few cases of such a disease around the world.
Manifestations of the
syndrome Goldenens syndrome manifests itself as external anomalies. With it, there is a deformation of the auricles, which have characteristic outgrowths. They can have a flat shape or protruding, affect only one ear or break symmetry on both sides. Sometimes they connect with the corner of the mouth, as a result, the face becomes distorted. Ears most often strongly deformed, sometimes narrowing of the ear canal or the presence of fistulas.
Because of the underdevelopment of the lower jaw, a person is often asymmetric. 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 is not affected by this disease in all cases. But if nevertheless the anomalies touched him, the cervical vertebrae fuse with the back of the head or between themselves.
On the palate may be crevices, the tongue splits, and the growth of the teeth is significantly impaired. Often, patients develop mental retardation. Her degree can be different. But mental retardation still occurs only in ten percent of patients.
Causes of the occurrence of
disease Goldenhara syndrome has not been studied enough. But most scientists agree that genes are the cause of its appearance. In most cases, the nature of the disease is sporadic.
Why else may Goldenhar syndrome occur? Causes may also lie in the blood relationship of the parents. But a major role in the onset of the syndrome may 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 maternal.
Syndrome The inheritance of Goldenhar syndrome is transmitted by an autosomal recessive or dominant type. Perestroika occurs in some chromosomes. Sometimes, when the syndrome appears, mutations of the GSC gene are detected. If the mutation also affects the TCOF1 gene, this leads to the development of an additional syndrome, Tricer-Collins.
Diagnosis of the
syndrome Many procedures are used to diagnose Goldenhar syndrome. One of them is hearing research. This helps determine the degree of deafness on the affected side. It is necessary to do this as soon as possible so that the child will not later lag behind in psycho-speech development.
At an early age, children are tested for auditory potentials, brain response and modulated tones. Examine the child during sleep. To older children, speech audiometry is used for hearing diagnostics during the game. With this syndrome, usually a loss of hearing loss of varying degrees. Diagnosis of hearing should be conducted every six months for seven years.
In addition to the above, computer tomography of the temporal zones is used, which is carried out for children over the age of three. A child with Goldenhar syndrome, whose pathology description is presented somewhat higher, should undergo a continuous examination with doctors:
- of a cardiologist;
- speech therapist;
Treatment of Goldenhar syndrome
Because of the diversity of facial and vertebral anomalies, when Goldenhar syndrome is detected, treatment is multidisciplinary. It is multi-stage and depends on the volume of pathologies. If the case is easy, then the child is under observation for only three years, and then begins orthodontic treatment and surgical operations. If the case of a complex disease( cleft palate, defect of the jaws and so on), then the treatment passes through a different scheme. First, operations are performed - a maximum of two years. And only after that they carry out complex treatment.
Goldenhar syndrome( hemifacial microsomia) always requires surgical treatment. In this case, several stages are distinguished:
- compression-distraction osteogenesis;
- endoprosthetics of the TMJ;
- osteotomy of the lower and upper jaws;
- plastic surgery.
For orthodontic stages, it is characteristic to prevent the development of various asymmetries in the jaw, to remove an incorrect bite, to prepare the teeth and facial muscles for operations.
Goldenenhara syndrome: orthodontic treatment
Orthodontic treatment is divided into three stages of bite:
The first stage is the most important. During it, parents are first informed about the vice, the degree of its severity and possible subsequent risks and the development of the disease. The obligatory rules of oral hygiene are reported, which the child must adhere to rigorously. If the baby does not receive timely treatment at once, then with age, he may develop underdevelopment of the bones of the face. And it will progress. An abnormal bite will become more noticeable with time. Swallowing and chewing the baby will be more difficult. And as a result of the listed deterioration - the psychological trauma of parents and the child.
At treatment at the first stage removable elastic jaw and plate devices are applied. This is the time when the main goal of doctors is to introduce the child to special devices, help him to adapt and get used to their use. If the asymmetry is not initially expressed, then such devices have a warning character.
The second stage of treatment of
The main tasks are to eliminate bite anomalies. Correct the irregular shapes and dimensions of the dental alveolar arches. Work continues on the prevention and elimination of malformation of the jaw and its underdevelopment. Removable elastic plates are used for treatment. These devices serve as support and support for the jaws. In addition, non-removable wireframes are used.
The third stage of
The third stage continues all the above treatment. But they start using already fixed brackets. At the end of the treatment, the retention period is applied, during which the results achieved before are fixed. Used non-removable wire retainers, fixing the upper palate and teeth. For others, such devices are already invisible.
Simultaneously, the child receives a removable latch that 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 the child ends only by the age of 18, that is, when his body is already fully formed.