Goldenhar syndrome

Oculo-auriculo-vertebral dysplasia, as this rather rare congenital pathology is also called, usually affects the development of the organs of one half of the face: the eye, ear, nose, soft palate, lips, jaw. It is a separate type of facial microsomy, in which the external organs of one half of the face differ markedly in smaller sizes because of the intrauterine underdevelopment of skeletal, neuromuscular and other components of soft tissues (derivatives of I and II branchial gaps). Very rarely, this pathology is bilateral.

[1], [2], [3], [4], [5]

Epidemiology

Medical statistics show that diseases of the oculo-auriculo-vertebral spectrum in the structure of intrauterine anomalies of the craniofacial zone follow such pathologies as harelip and wolf mouth, both combined and separate. The frequency of occurrence of the Goldenhar syndrome, mentioned in foreign medical literature, is one child of 3.5-7 thousand live births. This syndrome is diagnosed in one of thousands of deaf newborns. Approximately 70% of cases of lesions are unilateral, with bilateral defects they are more pronounced on the one hand, with the right side prevailing among them with a frequency of 3: 2. Distribution by sex - for two male children, two girls fall.

[6], [7], [8]

Causes of the Goldenhar syndrome

The combination of dysplasia of the eyes, ears and spine, described in the early 50-ies of the last century by the American doctor M. Goldenhar, was immortalized by his name. This rare congenital pathology is still little studied, but the opinion of the majority of researchers coincides in the fact that it is etiologically conditioned by genetic predisposition. The type of inheritance is not currently defined, the cases of the disease are sporadic. There are reports of autosomal dominant family inheritance. In patients with this disease, chromosomal abnormalities are detected. Hypothetically, the risk factors for the birth of a child with dysplastic lesions of the oculo-auriculo-vertebral structures are the bloodbearing, the abortion preceding the child's birth, and teratogenesis of exogenous or endogenous nature, in particular diabetes mellitus or maternal obesity.

The risk of birth of a sick child in a genetic carrier is 3%, and the repetition of the birth of a child with this defect in one family is equivalent to 1%.

[9]

Pathogenesis

The pathogenesis, again, hypothetically, is based on the possibility of hemorrhage in the region of I and II gill slits of the embryo, coinciding in time with the replacement of the source of blood supply in this zone. The supply of blood from the steno artery is replaced by supply from the external carotid artery. Vascular stroke, which occurred at a given time and place, leads to pathological transformations of cell proliferation and abnormal formation of musculoskeletal, nervous and other elements of soft tissues developing from derivatives of I and II gill slits.

[10], [11], [12], [13], [14], [15]

Symptoms of the Goldenhar syndrome

The first signs of the presence of facial microsomy are mainly determined visually when examining the newborn. Typical symptoms are some facial asymmetry, a violation of the size and position of the orbit, deformation of the auricles in the form of specific auricular "protrusions", while other changes in the external ear may be absent, underdevelopment of the lower jaw.

With the growth of the child, the symptoms become more and more noticeable. Goldenhead's phenotype includes anomalies of ear development (microtia), eyes, nose, soft palate, lips and jaw. One of the typical symptoms is the presence of a chorister (epibulbar dermoid) on the surface of the eyeball. These are tumor formations that contain tissue not characteristic for their localization (hair follicles, sebaceous and sweat glands, fibrous tissue). This symptom is specific for 70% of cases of Goldenhar syndrome. Out of ophthalmologic malformations, 25% of cases and more may be present - lipodermoids in the outer region of the conjunctiva of the eyeball, upper eyelid crusts, oculomotor musculature defects, a cut of the eyes with lowered external corners of the eyeballs. Occasionally (not more than 5% of cases), there is a small diameter of the cornea of the eye, a through defect or absence of the iris, the lower eyelid, the underdevelopment of the eyeball and its small size, strabismus and cataract.

Anomalies in the development of the auricles are most common. They are deformed and noticeably less than the norm in size (about 80% of patients), half of patients with the syndrome have an abnormal location, there may be no external auditory canal (40% of patients). Defects in the development of the middle ear and absence of hearing were observed in 55% of patients.

A very characteristic sign of the Goldenchar syndrome (85%) is the development of the processes of the lower jaw, the facial muscles, the upper and lower jaw are also often quite asymmetrical and underdeveloped. When examining the oral cavity, there is a sky in the form of a high arch, sometimes with a crevice, an open bite, a wide mouth slit, a cleft of the tongue and additional bridles.

Slightly less than half of the cases were accompanied by hypoplasia of the vertebrae, more often the cervical region - wedge-shaped, merged, semi-vertebra, scoliosis, third - spina bifida, malformations of the ribs, fifth part - clubfoot.

Less than a third of cases of Goldenhar syndrome were accompanied by abnormalities in the development of the cardiovascular system (intraventricular septal defect, open Botalla duct, tetralogy of Fallot, narrowing or complete overlap of the aorta). Mental retardation was observed to varying degrees in a tenth of patients with this syndrome.

There are several classifications that reflect the stages of the disease, or rather the degree of its severity. The most complete is OMENS. It identifies three stages of the severity of the lesion of each of the malformation objects in hemifacial microsomy: the eye (orbit), mandible, ear, facial nerve and skeletal bones. Since defects are multiple and each structure is usually affected in different degrees, it looks like this: O2M3E3N2S1 *. The asterisk reflects the presence of additional defects of non-skeletal-facial objects.

The classification of SAT draws attention to three main objects: the skeletal (skeletal), the shell of the ear (auricle), soft tissue (soft tissue). According to this classification, the developmental defects of the skeleton are considered in five stages (from S1 to S5), violations of the structure of the auricle - four (from AO to A3); soft tissue defects - three (from T1 to T3). So, the easiest stage of the disease is S1A0T1, severe developmental anomalies are S5A3T3. The SAT system loses in comparison with the previous one in the absence of important targets, which are not reflected in it.

Some authors distinguish the types of hemifacial microsomy by the phenotype associated with the objects of lesions. In this classification, the Goldenhara type is isolated in a separate species with its specific developmental defects.

[16], [17], [18], [19]

Complications and consequences

The consequences and complications of this congenital pathology are directly related to the severity of developmental anomalies, some of which are incompatible with life, while others, for example, an incorrect bite, can cause a number of discomforts. A lot depends on the timely treatment. If time is lost, then the child with this pathology manifests hypoplasia of the facial bones, with progressive and increasingly noticeable. It becomes difficult to perform swallowing and chewing movements. The pathologies of vision and hearing will also progress. The result of all the deteriorations will be serious physical inconveniences and psychological discomfort, which will affect the quality of life of the child and his parents.

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

Diagnostics of the Goldenhar syndrome

As a rule, a preliminary diagnosis of this congenital anomaly is established already in a newborn when an asymmetry of the face is revealed in combination with other specific visual symptoms.

To clarify the diagnosis of the disease used a variety of diagnostic procedures. One of the first is to determine the severity of the hearing, since the lesions of the outer and inner ear are encountered in almost every case and first of all attract attention. Early hearing research is caused by the need to prevent the child's lagging behind in psycho-speech development. At an early age, the child is diagnosed during sleep. The following methods are used: impedanceometry, registration of auditory evoked potentials (electrochlearography, otoacoustic emission), computer audiometry.

Older children are tested in game form using speech audiometry. Instrumental and subjective hearing diagnostics are indicated every six months for seven years.

First-priority consultations should be at the maxillofacial surgeon, ophthalmologist, orthodontist, orthopedist, otolaryngologist, in order to diagnose the maximum possible developmental anomalies. Instrumental diagnostics and tests specialists are appointed as necessary, depending on the revealed pathologies. Usually prescribed electrocardiography, radiography, ultrasound examination of internal organs.

A child after reaching the age of three years is assigned a CT scan of the temporal zones.

Children who have this diagnosis, require the advice of many specialists, depending on the presence of malformations: a surdologist, speech therapist-defectologist, cardiologist, nephrologist, neurologist and others.

[24], [25]

Differential diagnosis

Differential diagnosis with other congenital craniofacial malformations such as dysostosis - Mandibular-Facial, hemifacial, akrofatsialny, other hemifacial microsomia syndromes - Kaufman and roto-face, finger, Chardjui Association.

Treatment of the Goldenhar syndrome

The variety of malformations of the skull and spine, as well as other organs and systems in patients with this congenital pathology leads to multistage treatment in many specialists. With mild degrees of damage, the child is observed up to three years, and then surgical treatment begins.

In cases of severe birth defects, surgical treatment is first applied (in infancy or until reaching two years). After that, symptomatic complex treatment is performed. The Goldenhar syndrome without multi-stage surgery can not be cured. The number and volume of surgical operations depend on the severity of pathologies. Such patients usually undergo compression-distraction osteosynthesis; endoprosthetics of the temporomandibular joint, lower and upper jaw; osteotomy of the nose, lower and upper jaws, correcting the defects of their development and pathological bite; plastic surgery (genioplasty, rhinoplasty). To prevent inflammatory complications and accelerate the process of rehabilitation, antibiotic therapy and vitamin therapy are prescribed. In maxillofacial surgical manipulations, as a rule, osteotropic antibiotics are prescribed: penicillins, lincomycin, erythromycin.

Penicillins are natural compounds synthesized by various forms of penicillin mold and semisynthetic ones, based on 6-aminopenicillanic acid isolated from natural compounds. Their antibacterial ability is based on the violation of the cell membrane of the bacillus. They are low-toxic, have a wide range of dosages, however, most of the medicinal allergies are caused precisely by antibiotics of the penicillin series.

Lincomycin is the antibiotic of choice for allergies to penicillins, can be given to children from a month old, the therapeutic dosages of the drug have a bacteriostatic effect, the higher bactericidal, is used to eliminate infection of bones, joints, soft tissues. Contraindicated in severe disorders of renal and hepatic function. May cause an allergy.

Erythromycin - belongs to the group of macrolide anabacterial agents, has a wide spectrum of bactericidal action, it can be used in ophthalmology. Children are appointed from year. One of the side effects of this drug, as well as the response to an overdose is hearing loss, however, it is considered reversible. Therefore, the drug can be prescribed with intolerance of the previous two, especially since preventive antibiotic therapy is prescribed for a short time. Its goal is to achieve the greatest therapeutic density of the drug in tissues by the time of surgery. Preventative treatment is started an hour or two before the operation and is discontinued after two to three days.

Depending on the presence of pain, analgesics are prescribed. Small children are prescribed children's Nurofen, which has a speed, and also provides antipyretic and anti-inflammatory effect and a sufficiently long-lasting effect (up to eight hours). The maximum dosage should not exceed 30 mg per kilogram of the child's weight every day.

During the rehabilitation period, the child should be provided with adequate nutrition and vitamins. Polyvitamin complexes are prescribed, including ascorbic acid, retinol, tocopherol, vitamins of group D and B.

To prevent infection and resorption of postoperative edema and infiltrates, physiotherapeutic treatment with ultraviolet radiation, ultrasound and electromagnetic waves, as well as laser and magnetic therapy and their combination, hyperbaric oxygenation are used.

Orthodontic treatment involves the prevention of asymmetric development of the jaws, correction of abnormal occlusion, pre-operative preparation of teeth and facial muscles for operations. Treatment for an orthodontist is divided into stages corresponding to three types of bite:

• dairy - the most important stage of treatment, because the first; the child and his parents are introduced to the pathology, the likelihood of complications and the rules of oral care, the apparatus for the correction of maxillary defects, the habituation to the necessary procedures takes place:
• replaceable - at this stage the main task is to correct the bite, prevent and correct the malformations of the jaws;
• permanent - at this stage, the initiated measures are being continued, removable devices are replaced with bracket systems, various fixators, depending on the need.

Retention measures that complete the treatment are conducted to consolidate the achieved and end at the age of 18, when the body is almost formed. All this time before reaching adulthood the child is under the control of doctors, depending on the severity of the disease, he is prescribed medications, vitamins and various procedures, as necessary. The complex of treatment usually includes therapeutic gymnastics and work with the faculty and psychologist.

Alternative Medicine

Defects in the development of cranial and vertebral structures in the Goldenhar syndrome suggest surgical intervention, however, alternative treatment can be an additional good aid in the rehabilitation period. I just want to remind you that the possibility of using an alternative method must first be discussed with the attending physician.

Therapeutic exercises for bite correction

These exercises should be done during the day at least two times, each of them must be repeated at least six times:

• open the mouth as wide as possible, count up to ten in this position and close it sharply;
• the starting position: by touching the tip of the tongue to the sky, to take it away, not taking it from the sky, as deep as possible - now several times as wide as possible to open your mouth and close it;
• sit down, put elbows on the table, firmly rest your chin in the palms folded horizontally on each other - several times open and close your mouth (the lower jaw should remain motionless on the palms of your hands).

It is also useful to load the jaws by regularly chewing on solid foods.

Dermoid cysts, characteristic of the Goldenchar syndrome, are treated only surgically.

However, there are alternative methods of getting rid of cysts. It is recommended to cleanse the eyes with decoctions of medicinal herbs: for example, make a decoction of the flowers of cornflower, leaves of plantain and cumin seeds, dig in three drops in each eye at least five times a day.

You can rinse your eyes with tea brew or a decoction of chamomile flowers: a glass of boiling water - three tablespoons of flowers.

Another quite safe and vitamin prescription: to mix 1: 1 honey and juice from berries of a viburnum. The first week to take one gram of the mixture on an empty stomach in the mornings (in a teaspoon without a top - eight grams of honey), in the second week - to increase the dose twice, on the third - twice, on the fourth - the dosage is 10 g of honey. Then take a break and repeat the procedure in the reverse order, starting at 10g.

At a deafness too apply treatment by grasses:

• two teaspoons of a root of aira to fill in with boiling water in volume of 600 ml, to insist 2-3 hours, to drink on three table spoons before three receptions of nutrition within a month, it is possible to repeat two weeks later;
• ½ cup anise seeds to top up with oil from the hips, leave in a dark cool place for three weeks; then strain and dig in for a month, you can repeat after two weeks;
• brew and drink without restrictions tea from the petals of roses, it tones the walls of blood vessels and stimulates microcirculation of blood in the ears.

Homeopathy can not replace the surgical interventions needed for the multiple developmental defects inherent in the Goldenchar syndrome, however, homeopathic preparations can contribute to a rapid recovery after surgery (Arsenicum Albumum, Staphisagria). Individual abnormalities such as hearing loss (Asteria rheens), strabismus (Tanacetum), neoplasms on the head, eyelids (Crocus sativus, Grafitis, Tuy), as well as the general condition of the patient may well be corrected, especially after consultation with a homeopath physician.

[26], [27],

Prevention

Specific measures to prevent this congenital disease there. Nevertheless, a successful gynecological history of the mother, a healthy lifestyle of both parents and a responsible attitude towards procreation substantially increases the probability of the birth of healthy children.

If suspicions of the possibility of pathology at 20-24 weeks of pregnancy, an ultrasound scan of the face of the embryo is carried out in three dimensions: frontal, horizontal and sagittal. This method of research gives 100% effectiveness. There are other methods of prenatal diagnosis (fetoscopy, analyzes) that allow the family to conclude that it is appropriate to prolong the pregnancy.

[28]

Forecast

In case of comprehensive examination and timely detection of all anomalies (preferably in the infantile period), responsible attitude of the child's parents and long-term and complex treatment, the prognosis of this pathology is favorable in most cases. Approximately 75% of complex treatment and rehabilitation of children with congenital malformations of the skull and face is effective. In some cases, timely treatment and plastic surgery leads to the absence of external signs of the disease. Children study in general schools, universities, when they grow up, they work.

To the question: How many live with Goldenhar syndrome? You can answer this: the prognosis for life and health is fundamentally dependent on the presence of associated vices of other vital organs and systems.

[29], [30]