The Goldenhar syndrome got its name by the name of an American doctor who first described it in the middle of the last century. Since that time information about this pathology has been added a little due to its rarity and complexity of study, but thanks to modern technologies it not only can be diagnosed in utero, but also effectively treated.
Goldenhar syndrome - what is it?
The syndrome considered, which in medical sources is also referred to as "oculo-auriculo-vertebral dysplasia", "hemifacial microsomy syndrome", is a congenital disease with a large number of matching anomalies. Pathology is associated with damage during the embryonic development of the gill arches - transitional cartilaginous formations, from which the lower jaw, temporomandibular joint and the structure of the hearing aid are further formed.
Studying in more detail the Goldenhar syndrome, what kind of illness it is, what is the reason for its appearance, the scientists found that women are less susceptible to this pathology, and by the prevalence it occupies the third place among the defects of the cranio-maxillofacial zone development after such deviations as "hare lip " And" wolf mouth ". Identification of the disease in the fetus is possible at the 20-24 week of gestation through ultrasound diagnosis with scanning in three dimensions.
Goldenhar syndrome - causes
It is not established exactly what Goldenhar syndrome has a cause, but most scientists hold opinions on the genetic nature of the disease. Episodes of the disease are of a casual nature, but often after inquiries of relatives of patients the heredity factor is traced. Some theories consider the relationship of the development of pathology with the impact in the early stages of pregnancy of certain chemicals, viral pathogens.
In addition, the following facts from an anamnesis of a pregnant woman are considered risk factors for the development of an ailment:
- bloodbearing marriage;
- previous abortions ;
- excessive body weight;
- diabetes.
Goldenhar syndrome - symptoms
Goldengen's disease is detected in newborns during visual examination, often characterized by a complex of such manifestations:
- underdevelopment of the lower jaw;
- incorrect formation of the eye (violation of the position of the orbit and its size);
- deformation of the auricle;
- defect development of cervical vertebrae.
In most cases, symptoms are observed on one side of the face and trunk, bilateral lesions are less common. The degree of severity and combinations of manifestations are individual. In addition to these, there are the following abnormal signs of the Goldenhar syndrome:
1. Features of the structure of the face and mouth:
- facial asymmetry;
- underdevelopment of the zygomatic area;
- protruding forehead;
- wide mouth slit;
- additional bridles;
- language anomalies;
- cleft palate or lip.
2. Defects of the organs of hearing and sight:
- absence of auricle;
- aplasia of the auditory canal;
- deafness;
- strabismus;
- defect of oculomotor musculature;
- eye cyst;
- atrophy of the iris;
- bulging eye.
3. Pathology of internal organs and skeletal system:
- defect of the interventricular heart wall;
- narrowing of the aorta;
- tetrad of Fallot ;
- anomalies of the bronchopulmonary system;
- hydrocephalus;
- deformation of the renal pelvis;
- malformation of ribs;
- clubfoot;
- fusion of the first cervical vertebra with the occipital bone;
- scoliosis;
- mental undevelopment.
Goldenhar syndrome - treatment
In connection with the multicharacteristic manifestations, patients with Goldenhar syndrome are subject to differentiated treatment, which is often performed in several stages, as the child grows up. In mild cases, it is possible to observe different specialists until the child reaches the age of three, after which therapeutic measures are recommended, including surgical manipulations, orthodontic therapy. In severe cases, most of the interventions are performed until one or two years of age.
Treatment for orthodontics is carried out in three main stages, which correspond to the development of the dentoalveolar system (period of milk teeth, shift period, period of permanent bite). Patients are provided with removable and non-removable devices for correction of jaw and bite defects, and recommendations are given regarding the rules of oral care. Often by the age of 16-18, all medical and rehabilitation measures are being completed.
Goldenhar syndrome - operation
Gemifacial microsomia is treated with the mandatory conduct of surgical interventions, the type, volume and number of which varies depending on the degree of injury. Often, these types of operations are assigned:
- endoprosthetics of the temporomandibular joint, jaws (lower, upper);
- compression-distraction osteosynthesis;
- osteotomy of the nose;
- osteotomy of jaws;
- genioplasty;
- rhinoplasty;
- plastic of the auricle;
- contour plasty of the lower jaw, etc.
People with Goldenhar syndrome
Patients who are diagnosed with Goldenhar syndrome before and after surgery can look quite differently. If timely in childhood will be performed operations, including plastic, then the external signs of the disease may be practically absent. There are many examples where people with Goldenhar syndrome successfully study, find good work, lead families and give birth to children.
Goldenhar syndrome - prognosis
For patients with the Goldenhar syndrome, the prognosis is favorable in most cases, and much depends on the extent of the damage to the internal organs. With the detection of the whole complex of anomalies, the application of all possible methods for correcting violations, attentive attitude close to the patient, psychological support, there is a chance for a full recovery.