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 Table of Contents  
CASE REPORT
Year : 2017  |  Volume : 4  |  Issue : 2  |  Page : 150-154

Goldenhar syndrome: A case report and review


1 Department of Oral Medicine and Radiology, A B Shetty Memorial Institute of Dental Sciences, Nitte University, Mangalore, Karnataka, India
2 Department of Orthodontics, A B Shetty Memorial Institute of Dental Sciences, Nitte University, Mangalore, Karnataka, India
3 Department of Oral Medicine and Radiology, College of Dentistry, Gulf Medical University, Al Jurf, Ajman, UAE

Date of Web Publication14-Mar-2017

Correspondence Address:
Sonika Achalli
Department of Oral Medicine and Radiology, A B Shetty Memorial Institute of Dental Sciences, Nitte University, Mangalore - 575 018, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/cjhr.cjhr_118_16

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  Abstract 

Goldenhar syndrome (GS) is also known as hemifacial microsomia or oculo-auriculo-vertebral dysplasia. This condition mainly affects the oral cavity, eyes, ear, and vertebrae. This is a rare congenital anomaly. Here, we present a case of GS with a brief review on its etiology, clinical and radiographic features, differential diagnosis, and management.

Keywords: Goldenhar, oculo-auriculo-vertebral dysplasia, syndrome


How to cite this article:
Achalli S, Babu SG, Patla M, Madi M, Shetty SR. Goldenhar syndrome: A case report and review. CHRISMED J Health Res 2017;4:150-4

How to cite this URL:
Achalli S, Babu SG, Patla M, Madi M, Shetty SR. Goldenhar syndrome: A case report and review. CHRISMED J Health Res [serial online] 2017 [cited 2017 Mar 27];4:150-4. Available from: http://www.cjhr.org/text.asp?2017/4/2/150/201988


  Introduction Top


Goldenhar syndrome (GS) is also known as oculo-auriculo-vertebral (OAV) dysplasia. It is considered a variant of hemifacial microsomia.[1] GS was first observed and recorded by Carl Ferdinand von Arlt.[2] Maurice Goldenhar was the first to describe the syndrome in detail and thus the condition was called GS.[3] In 1960s, hemifacial microsomia was defined as a condition affecting primarily aural, oral, and mandibular development. GS was considered a variant of this complex because of additional vertebral anomalies and epibulbar dermoids.[2] The vertebral anomalies were included by Gorlin et al. in 1963 and then the name OAV dysplasia was suggested.[4],[5]

GS is said to be a rare congenital anomaly. The syndrome is characterized by a triad of anomalies comprising epibulbar dermoid, accessory auricular appendages, and aural fistula.[6] GS is a malformation complex of varying severities. It involves the structures arising from the first and second branchial arches, the first pharyngeal pouch, the first branchial cleft, and the primordia of the temporal bone.[4]

The characteristic clinical findings include the following:

  • Epibulbar dermoid or lipodermoid (mostly bilateral); colobomas of the upper eyelid, iris, choroidea, and retina, or other eye anomalies such as microphthalmia and anophthalmia
  • Preauricular skin tags or blind fistulas; microtia, or other external ear malformations, middle and internal ear anomalies
  • Unilateral facial hypoplasia, prominent forehead, hypoplasia of the zygomatic area, and maxillar and mandibular hypoplasia
  • Unilateral macrostomia
  • Vertebral column anomalies such as synostosis and bifid spine.[2],[4]


These above-mentioned features are sometimes associated with various malformations such as cleft lip and palate, tongue cleft, rib anomalies, anomalies of extremities, congenital heart disease, and mental retardation.[4]

Here, we present a case of GS with a brief review of literature.


  Case Report Top


A 15-year-old male reported to the department of oral medicine and radiology with the complaint of defect in the left side of the face since birth. The patient said that it was associated with defect in the left ear also. There was decreased hearing on the same side and he complained of difficulty in speech. There were no known medical history and drug allergies. There was no history of parental consanguineous marriage and no prevalence of similar problem in the family.

On general examination, the patient was conscious and cooperative; there were no signs of pallor, clubbing, cyanosis, icterus, and lymphadenopathy.

On extraoral examination, the patient had a convex facial profile [Figure 1]; facial asymmetry was detected due to hallowing of the left cheek and deformed left ear [Figure 2]. There was hypoplasia of the left malar region, left deformed ear [Figure 3], which can be described as microtia with preauricular tags. On examination of the eyes, whitish area was noticed near the outer canthus of both eyes, and solitary round soft-tissue mass was seen in the left eye indicative of epibulbar dermoids [Figure 4] and [Figure 5]. Temporomandibular joint examination revealed deflection of the mandible toward the affected side [Figure 6].
Figure 1: Facial profile - convex

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Figure 2: Frontal view - facial asymmetry

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Figure 3: Deformed left ear

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Figure 4: Right eye showing epibulbar dermoids

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Figure 5: Left eye showing epibulbar dermoids

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Figure 6: Deflection of the mandible toward the affected side

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Intraoral examination revealed the presence of partial ankyloglossia. No other abnormalities were seen during soft-tissue examination. Hard-tissue examination revealed Class I molar relation with respect to the right side, and on the left side, there was no occlusion.

A provisional diagnosis of GS was given, and differential diagnoses of mandibulofacial dysostosis and Townes–Brocks syndrome were given.

Radiographic investigations were carried out, and panoramic radiograph and posteroanterior cephalogram of the patient were taken. Panoramic radiograph showed hypoplasia of the left mandibular ramus, condylar and coronoid process [Figure 7]. Posteroanterior cephalogram showed hypoplastic left mandibular ramus and deflection of the mandible toward the affected side [Figure 8].
Figure 7: Panoramic radiograph showing hypoplasia of the left mandibular ramus, condylar and coronoid processes

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Figure 8: Posteroanterior cephalogram showing hypoplastic left mandibular ramus and deflection of the mandible toward the affected side

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Based on the radiographic findings, a diagnosis of GS was made. The patient was advised for orthognathic surgery followed by fixed orthodontic treatment. The patient was also advised a consultation with the plastic surgeon for reconstruction of the deformed ear and for ocular deformities.


  Discussion Top


GS is also known as OAV dysplasia or hemifacial microsomia. This condition consists of varying clinical manifestations. The clinical manifestations include craniofacial, vertebral, cardiac, renal, and central nervous system anomalies.[1] GS is a rare, inherited condition. It has a multifactorial etiopathology which includes nutritional and environmental factors that can result in disturbances of blastogenesis.[1]

The exact etiology is not really understood properly. There are numerous hypotheses which have been suggested. In the year 1964, Gorlin and Pindborg suggested that mesoblasts are affected by some abnormal process embryologically which, in turn, affects the branchial and vertebral systems, thereby resulting in the syndrome.[3] Hereditary pattern was thought to be the causative agent by Krause.[3] In the year 1971, Jong bloet suggested that this condition might be a result of fertilization of an overripe ovum.[3] GS may be a sporadic event that occurs early in embryogenesis as stated by Baum and Feingold. This may be explained by reduced penetrance, somatic mosaicism, or epigenetic change.[7],[8],[9] Familial cases in successive generations having a history of consanguineous marriages have also been reported.[10]

The incidence of GS has been reported to be between 1:35,000 and 1:56,000, with a male:female ratio of 3:2. Usually, it is unilateral and has a right-side predominance.[11]

There are certain clinical findings which are typical to GS:

Eyes: Microphthalmia, epibulbar dermoids, lipodermoids, and coloboma are the common manifestations seen in the eye. Epibulbar dermoids occur in about 35% of cases. These may be unilateral or bilateral. They appear as solid yellowish or pinkish white ovoid masses which vary in size from that of a pinhead to 8–10 mm in diameter. They usually occur at the inferotemporal quadrant at the limbus. The surface is usually smooth and frequently has fine hairs. They can occur at any location on the globe or in the orbit and can be dermoid or dermis like or complex.[2],[10]

Ear: Anotia to an ill-defined mass of tissue that is displaced anteriorly and inferiorly to a mildly dysmorphic ear may be seen. Supernumerary ear tags, unilateral and bilateral preauricular tags of skin and cartilage, along with blind fistulas and sinuses, are extremely common. Isolated microtia is considered a microform of OAV spectrum.[2],[10]

Face: Marked facial asymmetry with unilateral macrostomia may be seen due to displacement and abnormality of the pinna and other underlying abnormalities of the skeleton. Aplasia or hypoplasia of the mandibular ramus and condyle may be seen. This in turn may lead to reduction in the size of maxillary, temporal, and malar bones. Hypoplasia of the zygomatic area may also be seen.[2],[10]

Skeletal alterations: Defects of the skull such as cranium bifidum, microcephaly, dolichocephaly, and plagiocephaly have been noted. Spina bifida, hemivertebrae, butterfly, fused, and hypoplastic vertebrae like vertebral anomalies have been seen.[2],[10]

Other systems: Anomalies affecting trachea, lung, heart, kidney, and gastrointestinal systems may also be associated.[2],[10]

The present case also had the classic features such as facial asymmetry, epibulbar dermoids affecting both the eyes, microtia with preauricular tags and hypoplasia of the left mandibular ramus, and condylar and coronoid processes resulting in facial asymmetry affecting the left side, thus leading to a diagnosis of GS.

Differential diagnosis of Treacher–Collins syndrome and Townes–Brocks syndrome has been considered. Treacher–Collins syndrome usually shows similar features with a bilateral presentation. Townes–Brocks syndrome shows additional thumb anomalies, anal defects, and renal anomalies which are not seen in GS.[2]

The treatment of the patient depends on the age and systemic condition. Management is usually cosmetic. Reconstructions can be done using rib bone grafts in patients with hypoplastic mandible. Bone distraction and osteogenesis may be used to lengthen the underdeveloped maxilla. In cases with cleft lip and palate, surgical corrections can be done followed by orthodontic correction on completion of jaw growth. In patients with malformed or deformed external ear, reconstructive surgeries may be performed at an age of 6–8 years. Epibulbar dermoids present in the eyes may be surgically excised. Plastic surgery can be performed for structural deformities of the eyes and ear. The prognosis for this condition is good in patients with no systemic complications.[11],[12]


  Conclusion Top


Severe cases of GS can affect the routine and social life of the patient. Early detection can help avoid complications at a later stage of life. Such patients will have an increased risk for psychosocial difficulties. Social workers or certain communities can provide financial support for various cosmetic procedures. The families of such patients can be given moral support and counseling for accepting their kins and relatives with such conditions.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Martelli H Jr., Miranda RT, Fernandes CM, Bonan PR, Paranaíba LM, Graner E, et al. Goldenhar syndrome: Clinical features with orofacial emphasis. J Appl Oral Sci 2010;18:646-9.  Back to cited text no. 1
    
2.
Gorlin RJ, Cohen MM, Levin LS. Syndromes of the Head and Neck. New York: Oxford University Press; 1990. p. 707-8.  Back to cited text no. 2
    
3.
Mellor DH, Richardson JE, Douglas DM. Goldenhar's syndrome. Oculoauriculo-vertebral dysplasia. Arch Dis Child 1973;48:537-41.  Back to cited text no. 3
    
4.
Kokavec R. Goldenhar syndrome with various clinical manifestations. Cleft Palate Craniofac J 2006;43:628-34.  Back to cited text no. 4
    
5.
Tuna EB, Orino D, Ogawa K, Yildirim M, Seymen F, Gencay K, et al. Craniofacial and dental characteristics of Goldenhar syndrome: A report of two cases. J Oral Sci 2011;53:121-4.  Back to cited text no. 5
    
6.
Bekibele CO, Ademola SA, Amanor-Boadu SD, Akang EE, Ojemakinde KO. Goldenhar syndrome: A case report and literature review. West Afr J Med 2005;24:77-80.  Back to cited text no. 6
    
7.
Tasse C, Majewski F, Böhringer S, Fischer S, Lüdecke HJ, Gillessen-Kaesbach G, et al. A family with autosomal dominant oculo-auriculo-vertebral spectrum. Clin Dysmorphol 2007;16:1-7.  Back to cited text no. 7
    
8.
Baum JL, Feingold M. Ocular aspects of Goldenhar's syndrome. Am J Ophthalmol 1973;75:250-7.  Back to cited text no. 8
    
9.
De Golovine S, Wu S, Hunter JV, Shearer WT. Goldenhar syndrome: A cause of secondary immunodeficiency? Allergy Asthma Clin Immunol 2012;8:10.  Back to cited text no. 9
    
10.
Sinha S, Singh AK, Mehra A, Singh R. Goldenhar Syndrome – A literature review. JSM Dent 2015;3:1052-5.  Back to cited text no. 10
    
11.
Ashokan CS, Sreenivasan A, Saraswathy GK. Goldenhar syndrome – Review with case series. J Clin Diagn Res 2014;8:ZD17-9.  Back to cited text no. 11
    
12.
Mehta B, Nayak C, Savant S, Amladi S. Goldenhar syndrome with unusual features. Indian J Dermatol Venereol Leprol 2008;74:254-6.  Back to cited text no. 12
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  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8]



 

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