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Goldenhar Syndrome

Goldenhar's Syndrome

Goldenhar syndrome, also known as Oculo-Auriculo-Vertebral syndrome or facio-auriculo-vertebral dysplasia, is a rare developmental syndrome, characterized by facial asymmetry and abnormalities of the ears, eyes and vertebra.


Presentation

As the cause of disease is at the early embryological level, it presents as a mixture of various defects affecting different organs of the body. Conditions like Blepharoptosis, microphthalmia, epibulbar tumors, and retinal anomalies have been reported in Goldenhar syndrome. Visual acuity is generally decreased. The frequency of mental retardation amongst individuals affected with Goldenhar syndrome varies from 5-15% in documented cases. Children affected with anopthalmia or microphthalmia and cleft lip or cleft palate are seen to be at an increased risk of cerebral malformations and mental retardation.

Studies were done to analyze the frequency and anatomic features of congenital heart defects in a series of 87 patients with OVAS [2]. Off these 87 patients, 28 patients had various Congenital Heart Diseases like atrial and ventricular septal defects, conotruncal defects, targeted growth defects, situs and looping defects, patent ductus arteriosus, tetralogy of Fallot (classic or with pulmonary atresia) and left sided obstructive lesion.

Renal ectopia and hydronephrosis are less commonly seen. Rarely, talipes equinovarus deformities or other limb anomalies are seen.

In these patients, the mandibular ramus and condyles are hypoplastic; the maxilla, malar, and temporal bones are smaller on one side; and the mastoid is poorly pneumatized. Around one third of the cases show bilateral involvement and approximately 60% cases show right side involvement.

Macrostomia or pseudomacrostomia i.e. lateral cleft-like extension of the corner of the mouth is usually seen. The parotid gland is also affected leading to either agenesis or displaced salivary tissue. Nearly 10% of the patients are affected with cleft palate and/or cleft lip. Lag in dental development occurs on the hypoplastic side along with lingual and palatal malformations. Microtia or occasional anotia are present, and preauricular tags occur between the tragus and the corner of the mouth. The middle ear shows ossicular anomalies and an abnormal course of the facial nerve.

Hearing loss is more commonly conductive than sensorineural. Cervical vertebrae are affected in 30% of cases, and hemi-vertebrae and fused vertebrae are also seen [3]. Tracheal and pulmonary anomalies and tracheoesophageal fistula are also seen in the Goldenhar syndrome on rare occasions.

Renal Artery Stenosis
  • This is a report of the successful angioplastic treatment of an association of renovascular hypertension with renal artery stenosis and the Goldenhar syndrome (a variant of oculoauriculovertebral dysplasia).[ncbi.nlm.nih.gov]
Turkish
  • A 7-year-old Japanese girl and 12-year-old Turkish boy with Goldenhar syndrome were examined clinically and radiographically; both had symptoms of hemifacial microsomia.[ncbi.nlm.nih.gov]
Macrostomia
  • […] eyelid, exophthalmia, strabismus), auricular symptoms (dacryocystitis), preauricular appendages, preauricular fistulas, ear asymmetry, microtia, atresia of the external auditory canal), craniofacial deformities (cleft face, cleft lip, cleft palate, macrostomia[ncbi.nlm.nih.gov]
  • Fig. 8: Convergent strabismus, matted eye lashes, macrostomia, and pyoderma.[healio.com]
  • The additional features seen in this case are macrostomia and small projections on the cheek on the left side.[ijo.in]
  • Mouth: macrostomia, cleft lip and/or cleft palate (10%), soft palate malfunction, agenesis of the parotid, tracheo-oesophageal fistula.[patient.info]
Small Hand
  • Here, we describe a case of Goldenhar syndrome in a 1-day-old female newborn, who presented with right external ear atresia, left preauricular appendices, cleft-like extension of the right oral angle, mandibular hypoplasia and relatively small hands.[ncbi.nlm.nih.gov]
Limitation of Neck Movement
  • For anesthesiologists, airway management is of great interest because of facial and oral abnormalities such as mandibular hypoplasia and limitation of neck movement.[ncbi.nlm.nih.gov]
Long Arm
  • In light of previous linkage studies mapping OAVS to 14q, we propose that the long arm breakpoint in our proband disrupted a potential candidate gene for OAVS resulting in his clinical phenotype.[ncbi.nlm.nih.gov]
Cranial Asymmetry
  • MATERIALS AND METHODS: Hemifacial microsomia, cranial asymmetry, multiple ear tags, skin tags around the mouth and microtia were the most prominent facial features encountered in six patients with Goldenhar syndrome.[ncbi.nlm.nih.gov]
Neurologic Manifestation
  • The most frequent neurological manifestation was facial nerve paralysis (12%), while the incidence of mental retardation was higher (23%) than reported in the literature, presumably attributed to the severe hearing and vision loss.[ncbi.nlm.nih.gov]

Workup

The diagnosis of Goldenhar syndrome is mainly made on the basis of external signs.

An ultrasound examination of the heart should be carried out at an early stage to establish whether the child has a heart defect. Most heart defects require surgical intervention.

An MRI examination of the brain should be carried out to investigate whether there is damage to the central nervous system. If abnormalities of the internal organs are suspected, examinations of the lungs, urinary tract and gastrointestinal canal should be performed. Eye examination in early stages is important as well.

Hearing should also be tested. Abnormalities of the middle and inner ear are identified using a CAT (computed tomography) scan of the temporal bone [4].

Abnormalities of the cervical spine, hands and arms require X-ray examinations.

Hypercapnia
  • RESULTS: A preponderance of patients demonstrated severe obstructive sleep apnea and hypercapnia. CONCLUSIONS: Patients with Goldenhar Syndrome should be screened for sleep apnea and hypercapnia. Copyright 2015 Elsevier Ireland Ltd.[ncbi.nlm.nih.gov]

Treatment

All children with craniofacial malformations are treated by a specialist craniofacial team, which assesses which operations are appropriate. Operations on the face and jaws, and on the external part of the ears, may be necessary. Procedures are carried out to improve function and appearance and they require planning and coordination between medical specialists. A plastic surgeon, oral and maxillofacial surgeon, dentofacial orthopedist, anaesthetist, ophthalmologist and ear specialist may all be involved for a good outcome.

Cleft palate should be treated by operating the soft palate in the first year after birth. Goldenhar syndrome affected individuals require oral and maxillofacial surgery and extensive orthodontic treatment. The objective is generally to create a symmetrical jaw and to improve the bite.

If the surface of the eye has major abnormalities and more importantly if the cornea is affected, impaired vision and refractive errors will often manifest and the child may require both spectacles and vision therapy.

Children with impaired hearing in only one ear develop speech quite well but if both ears are affected, auditory aids are required.
Children with intellectual disability need early rehabilitation to stimulate their development and help compensate for various dysfunctions.

Abnormalities of the cervical spine, hands and arms should, if necessary, be treated by an orthopaedic surgeon.

Prognosis

The majority of children born with Goldenhar syndrome have a normal life expectancy. With surgery and counseling, symptoms of Goldenhar syndrome can be managed. In less severe cases, this birth defect does not affect child’s intellectual development.

A new classification system has been proposed based on a study of 53 children to aid prognosis [5].

Etiology

Goldenhar syndrome is a congenital disorder having autosomal dominant transmission. It is seen that animal models have vascular disruption and hematoma formation which affects the developing structures of the jaw and the ear regions in utero. Another theory suggests that the disturbance of the population of the neural crest cells occurs at 30-45 days of gestation which leads to this type of dysplasia. It is also suggested that there is brachial arch development issue late in first trimester. Several chromosomal abnormalities have been associated with the Goldenhar syndrome, including partial loss of chromosomes 5, 6, 8 or 18, or the addition of extra chromosomal material, such as trisomy 22.

An increase in the prevalence of children born with Goldenhar Syndrome was found post Gulf war but was found to be statistically insignificant at the end [1].

Epidemiology

Goldenhar syndrome occurs sporadically in most of the cases. 1-2% of the reported cases occur within a family, suggesting autosomal dominant transmission. The frequency of the condition ranges from 1 case per 3500 births and 1 case per 25,000 births.

Sex distribution
Age distribution

Pathophysiology

The exact cause of this syndrome is not known but various studies suggest alterations during embryological development. One hypothesis suggests vascular disruption and hematoma formation, thereby affecting the development of jaw and ear structures. A different theory suggests disruption is the neural crest cells during 30-45th days of gestation.

These neural crest cells under normal conditions later differentiate into the cranial neural crest, trunk neural crest, vagal and sacral neural crest, and cardiac neural crest. The cranial neural crest cells contribute to the formation of thymus, bones of middle ear, the jaw and the odontoblasts of the tooth primordia. The trunk neural crest cells form dorsal root ganglia, sympathetic ganglia, adrenal medulla and nerves surrounding the aorta. The vagal and sacral neural crest develops into ganglia of the enteric nervous system and the parasympathetic ganglia. Cardiac neural crest develops into melanocytes, cartilage, connective tissue and neurons of some pharyngeal arches. It also forms different regions of the heart such as the musculo-connective tissue of the large arteries, and a part of the septum, which divides pulmonary circulation from the aorta.

According to a recent study, the semilunar valves of the heart are also associated with neural crest cells. Therefore, any disruption in neural crest cells leads to widespread anomalies in the offspring. The hypothesis that mentions a defect in brachial arch development also results in similar widespread anomalies as the brachial arch later contributes in formation of neck, face, larynx, pharynx, mouth, bones, cartilages, cranial nerves, muscles ligaments etc.

Prevention

There are no guidelines for the prevention of Goldenhar syndrome.

Summary

Goldenhar syndrome, also known as Oculo-Auriculo-Vertebral (OVA) syndrome, is a rare congenital defect characterized by incomplete development of ear, nose, soft palate, lip and mandible.

The condition was documented in 1952 by Maurice Goldenhar. The term oculoauriculovertebral dysplasia was coined by Gorlin, Cohen and Levine due to it’s spectrum of anomalies ranging from head, face mouth, that denote unilateral microtia, mandibular hypoplasia and microstomia, to Goldenhar syndrome, which also includes epibulbar dermoids and vertebral anomalies.

Patient Information

Goldenhar syndrome is a congenital disorder that manifests in the form of widespread anomalies affecting multiple organ systems and special senses. The person affected present with structural anomalies of face, jaw, eyes, heart, ears, lips, jaw, mandible, spine, hands, arms, brain, and sometimes lungs, gastrointestinal tract and urinary system. Patients commonly have to undergo various extensive, cosmetic surgeries to correct these anomalies so that they can lead a near normal life. These surgeries have to be conducted at different stages in life, depending on their effects on the individual.

Most of the anomalies can be corrected by surgery but many of them like hearing disability, visual disability, intellectual disability etc. require extra care and rehabilitative training. Children with an intellectual disability need early rehabilitation to stimulate mental development and take care of various dysfunctions. Rehabilitation includes assessment, treatment, assistance with choice of aids, information about disabilities and counseling.

Most children with impaired hearing in one or both ears can be helped by auditory aids. It is important for the child’s development that this start at an early stage.

Information should be provided to the school before the child starts attending the school, so that he or she can receive the necessary supervsion. Attitudes vary greatly among people with the syndrome, while their appearance may affect their relations with those around them. The teenage years in particular can be a difficult period for young people with the Goldenhar syndrome. When the young person becomes an adult and most operations have been completed, life often becomes easier.

Prior to operations on the face, a young person should meet a psychologist to ensure that expectations regarding the result of the procedures are realistic. Facial procedures often produce good results, but they usually take place over a long period and in stages. Parents of such children are also given psychological counseling as to how to manage and get along with their child.

References

Article

  1. Araneta MR, Moore CA, Olney RS et al. Goldenhar syndrome among infants born in military hospitals to Gulf War veterans. Teratology 1997, 56 (4): 244–251.
  2. Digilio MC, Calzolari F, Capolino R, et al. Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). Am J Med Genet A. Jul 15 2008;146 A(14):1815-9.
  3. Al Kassi A, Ben Chehida F, et al. Distinctive spine abnormalities in patients with Goldenhar syndrome: tomographic assessment. Eur Spine J. 2014 Feb 7.
  4. Hennersdorf F, Friese N, et al. Temporal Bone Changes in Patients With Goldenhar Syndrome With Special Emphasis on Inner Ear Abnormalities. Otol Neurotol. 2014 Mar 28.
  5. Tasse C, Böhringer S, Fischer S, et al. Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet. 2005 Oct-Dec;48(4):397-411.

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Last updated: 2019-07-11 21:22