The goldenhar syndrome it is one of the most frequent craniofacial malformations. At the clinical level, this pathology is characterized by the development and presentation of a triad of atrial, ocular and vertebral alterations.
It can also cause other types of secondary pathologies, such as cardiac, genitourinary, tracheopulmonary complications, intellectual disability and delayed piscomotor development..
Currently, the specific cause of Goldenhar syndrome is not known, however, it has been related to factors associated with intrauterine trauma, exposure to environmental factors, genetic alterations, among others..
As for the diagnosis, it is possible to make it in the prenatal stage through early and transvaginal ultrasound, while in the neonatal phase, clinical evaluation and various laboratory tests are used mainly through ophthalmological, auditory or neurological examination.
Finally, the treatment of Goldenhar syndrome in the early stages usually focuses on life-sustaining medical interventions. In the later stages, it is based on the correction of craniofacial malformations and other medical complications through the participation of a multidisciplinary team..
This pathology entails important aesthetic and functional complications. Although those affected achieve an optimal quality of life, with a functional communication and adequate social development.
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This pathology was initially described by Von Arlt in 1941. However, it was not until 1952 when Goldenhar classified it as an independent pathology through the clinical description of three new cases..
Finally, Golin and his team (1990) definitively identified Goldenhar syndrome as a type of oculo-atrial-vertebral dysplasia.
Goldenhar syndrome is a pathology characterized by a wide group of craniofacial malformations and deformations, of unknown etiology and congenital or intrauterine origin.
In addition, different authors categorize Goldenhar syndrome as a polyformative pathology, that is, a grouping of anomalies and alterations with a pathogenic relationship to each other, but without representing an invariant sequence in all cases..
Specifically, in this pathology there is an abnormal or defective development of those anatomical structures that derive during the embryonic development of the first and second brachial arches..
The brachial arches are embryonic structures through which a wide variety of components, organs, tissues and structures are derived during prenatal development..
Six brachial arches can be distinguished that will give rise to the different structures that make up the head and neck, and specifically to the mandibular structure, the trigeminal nerve, the facial nerve, the muscular structure of the face, the glossopharyngeal nerve, different muscular components of pharynx, esophagus, etc..
During pregnancy, the incidence of various pathological factors can lead to a defective development of these embryonic components, causing the cranio-facial and vertebral malformations characteristic of Goldenhar syndrome..
Goldenhar syndrome is considered a rare or rare disease with sporadic appearance. However, within the disorders that occur with craniofacial malformations, it is the second most common disorder.
Despite the fact that statistical data about this pathology are not abundant, it is estimated that it presents an incidence close to 1 case per 3,500-5,600 newborns.
In addition, this disease is present from birth, due to its congenital nature and occurs more frequently in males..
The presentation rate related to sex is 3: 2, with a significant predilection towards males..
Due mainly to the symptomatological complexity, Goldenhar syndrome presents a widely heterogeneous clinical course.
Therefore, the expression of this pathology is highly variable among those affected, characterized by the presence of mild or hardly evident manifestations, a complex and serious medical condition.
Goldenhar syndrome is characterized by the development of malformations and abnormalities at the cranio-facial level. These preferentially affect unilaterally, in a higher proportion to the right area of the body surface.
Below we will describe some of the most common clinical manifestations in people with Goldenhar syndrome:
In general, the alterations that appear in this area are fundamentally related to craniofacial microsomy. That is, with a wide set of abnormalities that affect the formation of the skull and face and that are fundamentally characterized by asymmetry and alteration in the size of their structures.
In addition, other types of manifestations also appear such as:
- Bifid skull: This term refers to the presence of defects in the closure of the neural tube, an embryonic structure that will lead to the formation of various brain, spinal and cranial structures. In this case, a fissure may be seen in the cranial bone structure that can lead to meningeal or nerve tissue exposure..
- Microcephaly: this term refers to an abnormal development of the cranial structure at a global level, presenting a size or cranial perimeter smaller than expected for the sex and chronological age group of the affected person.
- Dolichocephaly: in some affected it is also possible to identify an elongated and narrower cranial configuration than usual.
- Plagiocephaly: It is also possible to observe in some cases an abnormal flattening of the posterior area of the skull, especially the structures located on the right side. In addition, it is possible that a displacement of the rest of the structures towards the front of the same.
- Mandibular hypoplasia: the mandibular structure is also significantly affected, developing incompletely or partially and giving rise to other types of oral and facial alterations.
- Facial muscle hypoplasia: the facial muscle is essential for the control of expression and various motor activities related to communication, eating or blinking. Individuals with Goldenhar syndrome can develop it partially, so that a good part of their functions may be seriously impaired and affected..
The presence of abnormalities related to the structure of the ears and auditory function is another of the characteristic features of Goldenhar syndrome:
- Anotia and microtia: one of the central findings in this pathology is the total absence of development of the ears (anotia) or the partial and defective development of these (microtia), characterized by the presence of a malformed skin appendix.
- Asymmetry of the ear canal: it is common for the structures that develop from the ears to do so asymmetrically in each of them.
- Hearing impairment: structural and anatomical alterations impair hearing acuity in most of those affected, thus it is possible to identify the development of bilateral deafness.
In addition to the pathologies described above, the eyes are another of the facial areas that are affected in the clinical course of Goldenhar syndrome:
- Anophthalmia and microphthalmia: It is also frequent that there are cases of total absence of the development of both or one of the eyeballs (anophthalmia). In addition, they may develop with an abnormally small volume (microphthalmia)..
- Ocular asymmetry: normally the structure of the eye sockets and the eyes is usually differential on both sides.
- Nystagmus- abnormal eye movements may appear, characterized by involuntary and rapid spasms.
- Colobomas: this term refers to an ocular pathology that is characterized by a hole or slit in the iris.
- Neoplasms: it is also possible that tumor masses develop at the ocular level that significantly affect the functionality and visual efficiency.
- Macrogtomy: despite the fact that the mandibular structure can develop partially, in individuals affected by this pathology it is possible to identify an exaggerated development of the oral cavity normally.
- Displacement of the salivary glands: the glands in charge of the production of saliva, and therefore of the continuous hydration of the oral structures, can be displaced towards other areas that hinder their efficient functioning.
- Palatal hypoplasia: the palate is usually one of the most affected structures, presenting an incomplete development characterized by the presence of fissures or fistulas.
- Dental malformations: the organization of the teeth is usually poor, in many cases it can make it difficult to articulate language or even eat.
The bone and muscle structure of the rest of the body can also be altered in the clinical course of Goldenhar syndrome. Some of the most common pathologies include:
- Scoliosis: deviation and curvature of the bone structure of the spine.
- Spinal fusion or hypoplasia: the bone and muscle structure surrounding the spine is usually partially or incompletely developed, causing significant complications related to standing and walking.
- Clubfoot: a deformity in the feet may appear characterized by a pathological turning of the sole and tip of the foot towards the inside of the legs, in a transverse plane.
As we noted in the initial description, the precise cause or causes of this type of craniofacial malformation have not yet been discovered..
The medical literature refers to the presence of factors related to exposure to pathological environmental factors, trauma and intrauterine blood interruptions or genetic alterations.
Authors such as Lacombe (2005) associate this pathology with various conditions:
- Defective development of mesoderm, embryonic structure.
- Ingestion of chemicals, such as drugs and drugs (retinoic acid, cocaine, tamoxifen, etc.).
- Exposure to environmental factors such as herbicides or insecticides.
- Development of gestational diabetes and other types of pathologies.
During the embryonic or prenatal stage it is already possible to identify the presence of this pathology, mainly through gestational control ultrasound.
In the case of clinical suspicion, it is also possible to use transvaginal ultrasound, whose efficiency can provide clearer data about physical malformations.
In the neonatal phase, magnetic resonance imaging or computerized tomography is usually used to confirm craniofacial and musculoskeletal alterations..
In addition, it is essential to evaluate in detail all oral and ophthalmological alterations, etc., to design the best possible medical intervention.
Although there is no cure for Goldenhar syndrome, a variety of medical approaches can be used to improve symptoms and medical complications..
Generally, after birth, all interventions focus on support measures and survival control of the affected person, control of food, breathing, symptoms, etc..
Subsequently, once all the individual clinical characteristics have been assessed and evaluated, a multidisciplinary medical intervention is designed with the collaboration of professionals from different areas: plastic, maxillofacial, orthopedic surgery, ophthalmologists, dentists, etc..
All interventions are mainly focused on correcting craniofacial anomalies at an aesthetic and functional level.
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