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Year : 2015  |  Volume : 7  |  Issue : 2  |  Page : 58-60

Bilateral Goldenhar syndrome: A rare case report

Department of Ophthalmology, GMCH, Chandrapur, Maharashtra, India

Date of Web Publication12-Nov-2015

Correspondence Address:
Chandan Govind Tiple
S/O G. N. Tiple, Ashok Nagar, Near Ashok Buddha Vihar, Visapur, Tah-Ballarpur, Chandrapur - 442 701, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/1858-540X.169438

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Goldenhar syndrome or oculo-auriculo-vertebral is a rare abnormality affecting the craniofacial region having extracranial manifestations as well. First described by Maurice Goldenhar, its etiology still remains uncertain. We report here the case of a 7-year-old boy with the classic signs of Goldenhar syndrome in the form of accessory tragi, bilateral ocular dermoids, and mandibular hypoplasia (micrognathia).

Keywords: Goldenhar syndrome, mandibular hypoplasia, periauricular tags

How to cite this article:
Tiple CG, Sarode U, Mohitkar S, Patel J. Bilateral Goldenhar syndrome: A rare case report. Sudanese J Ophthalmol 2015;7:58-60

How to cite this URL:
Tiple CG, Sarode U, Mohitkar S, Patel J. Bilateral Goldenhar syndrome: A rare case report. Sudanese J Ophthalmol [serial online] 2015 [cited 2023 Jan 31];7:58-60. Available from: https://www.sjopthal.net/text.asp?2015/7/2/58/169438

  Introduction Top

Goldenhar syndrome (oculo-auriculo-vertebral dysplasia with hemifacial microsomia) is a rare congenital anomaly involving the first and second branchial arches. [1] It is also known as the oculo-auriculo-vertebral syndrome (OAVS) because of the association of eye anomalies with or without vertebral and ear anomalies. [2]

  Case report Top

A 7-year-old male patient came to OPD, born of nonconsanguineous marriage, presented with complaints of congenital, asymptomatic lesions on the face, and eyes. There was no increase in the size of the lesions. There was no history of any convulsions or deafness. The child was born of a full-term normal delivery, and there was no history of any maternal illness during the pregnancy. All other family members were normal.

On examination, the patient was found to have a thin, narrow face with mandibular hypoplasia. There was accessory tragus in the preauricular area along the line joining the tragus and the angle of the mouth [Figure 1].
Figure 1: Preauricular tag

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Ocular examination showed the presence of bilateral, soft, pinkish-brown nodules on the bulbar conjunctiva, and the limbus, identified as dermoids [Figure 2]. There was a yellowish, soft lipodermoid, with a well-defined anterior margin on the temporal aspect of the right eye [Figure 3]. There was also small soft yellowish lipodermoid on the temporal aspect of the left eye. There was no evidence of any coloboma or microphthalmia. Skeletal examination was clinically normal. Examination of the cardiovascular, respiratory, gastrointestinal, and genitourinary systems revealed no abnormality. The patient's mental and physical development were normal for his age.
Figure 2: Limbal dermoid

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Figure 3: Lipodermoid

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The patient's hemogram and blood biochemistry were normal. Radiological investigations in the form of X-rays of the chest and of the spine and ultrasonography of the abdomen and of the pelvis revealed no abnormality. Pure tone audiometry revealed no evidence of deafness. Electrocardiogram and two-dimensional-echocardiography of the heart were normal.

We diagnosed the patient as a case of Goldenhar syndrome on the basis of multiple accessory tragi, ocular dermoids, and micrognathia. His parents were counseled regarding the condition and underwent surgery for excision of limbal dermoids [Figure 4].
Figure 4: Operated left eye dermoid

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  Discussion Top

Facio-auriculo-vertebral syndrome was first recorded by the German physician, Carl Ferdinand Von Arlt, in 1845. [3] In 1952, Goldenhar described a patient with a triad of accessory tragi, mandibular hypoplasia, and ocular (epibulbar) dermoids and called this constellation of features Goldenhar syndrome. [3] Gorlin et al. named this syndrome oculo-auriculo-vertebral dysplasia due to the presence of additional vertebral anomalies. [4]

The incidence of Goldenhar syndrome has been reported to be between 1:3500 and 1:5600, with a male:female ratio of 3:2. [2] The incidence is higher, about 1:1000, in children with congenital deafness. [3] The exact etiology is not known. However, it is possible that abnormal embryonic vascular supply, disrupted mesodermal migration, or some other factor leads to the defective formation of the branchial and vertebral systems. [2],[5] Most of the cases have been sporadic. Autosomal dominant, autosomal recessive, and multifactorial modes of inheritance have also been suggested. [2] Chromosomal studies have not revealed any abnormality. [6]

Ingestion of drugs such as thalidomide, retinoic acid, tamoxifen, and cocaine by the pregnant mother may be related to the development of this syndrome. Maternal diabetes, rubella, and influenza have also been suggested as etiologic factors. [7],[8] In our case, there was no history of maternal drug intake, any febrile illness, or diabetes during pregnancy.

The classic features of this syndrome include ocular changes such as microphthalmia, epibulbar dermoids, lipodermoids, and coloboma; aural features such as preauricular tragi, hearing loss, and microtia; and vertebral anomalies such as scoliosis, hemivertebra, and cervical fusion. [1],[2],[5] The abnormalities are found to be unilateral in 85% of cases and bilateral in 10-33% cases. [7] In Goldenhar syndrome, ocular anomalies, especially bilateral dermoids are seen in 60% of the cases, vertebral anomalies in 40% of the cases, and ear anomalies also in 40% of the cases. [2]

Other systemic features are found in about 50% of the patients. [5] Tetralogy of Fallot and ventricular septal defects are the most common cardiovascular anomalies associated with OAVS. [4] Cleft lip and palate, macrostomia, micrognathia, webbing of the neck, short neck, tracheoesophageal fistula, abnormalities of sternocleidomastoid muscle, umbilical hernia, inguinal hernia, urologic anomalies, hypoplastic vagina, and anal anomalies may be associated. [1],[5],[7] Anophthalmos, facial palsy, calcification of falx cerebri, undescended testes, and association of Goldenhar syndrome with Turnerís syndrome and glaucoma are the rarer reported associations. [6],[9]

Other syndromes associated with multiple preauricular tragi include  Treacher Collins syndrome More Details, Wolf-Hirschhorn syndrome, Nagerís acrofacial dysostosis, Wildervanck syndrome (cervicooculoacoustic syndrome), Townes-Brocks syndrome, and Delleman syndrome. [5] Treacher Collins syndrome is associated with maxillary and mandibular hypoplasia but is not associated with ocular and aural anomalies. [2]

The treatment of the disease varies with age and systemic associations and is mainly cosmetic in uncomplicated cases. In patients with mandibular hypoplasia, reconstruction can be done with rib grafts and an underdeveloped maxilla can be lengthened by a bone distraction device. Reconstruction surgeries of the external ear may be performed at the age of 6-8 years. Microvascular free flaps for mandibular reconstruction has also been advocated. [10] In patients with milder involvement, jaw reconstruction surgeries can be done in the early teens; epibulbar dermoids should be surgically excised. [2],[7] Structural anomalies of the eyes and ears can be corrected by plastic surgery. [2] Prognosis of the disease is good in otherwise uncomplicated cases without any systemic associations.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Riyaz A, Riyaz N. Goldenhar syndrome with unusual features. Indian J Dermatol Venereol Leprol 1999;65:143-4.  Back to cited text no. 1
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Kulkarni V, Shah MD, Parikh A. Goldenhar syndrome (a case report). J Postgrad Med 1985;31:177-9.  Back to cited text no. 2
[PUBMED]  Medknow Journal  
Reddy MV, Reddy PP, Usha Rani P, Hema Bindu L. Facioauricular vertebral syndrome - A case report. Indian J Hum Genet 2005;11:156-8.  Back to cited text no. 3
  Medknow Journal  
Nakajima H, Goto G, Tanaka N, Ashiya H, Ibukiyama C. Goldenhar syndrome associated with various cardiovascular malformations. Jpn Circ J 1998;62:617-20.  Back to cited text no. 4
Miller TD, Metry D. Multiple accessory tragi as a clue to the diagnosis of the oculo-auriculo-vertebral (Goldenhar) syndrome. J Am Acad Dermatol 2004;50 (2 Suppl):S11-3.  Back to cited text no. 5
Rao VA, Kaliaperumal S, Subramanyan T, Rao KR, Bhargavan R. Goldenhar′s sequence with associated juvenile glaucoma in Turner′s syndrome. Indian J Ophthalmol 2005;53:267-8.  Back to cited text no. 6
[PUBMED]  Medknow Journal  
Sharma JK, Pippal SK, Raghuvanshi SK, Shitij A. Goldenhar-Gorlin′s syndrome: A case report. Indian J Otolaryngol Head Neck Surg 2006;58:97-101.  Back to cited text no. 7
Rao VA, Rao S, Lamba PA. Goldenhar′s syndrome (an analysis of 10 cases and aetiological considerations). Indian J Ophthalmol 1982;30:147-9.  Back to cited text no. 8
[PUBMED]  Medknow Journal  
Jaison SG, Batra N. Goldenhar syndrome with multiple additional anomalies. Indian J Ophthalmol 1996;44:42-4.  Back to cited text no. 9
[PUBMED]  Medknow Journal  
Mueller CK, Bader RD, Schultze-Mosgau S. Microvascular free flaps for mandibular reconstruction in Goldenhar syndrome. J Craniofac Surg 2011;22:1161-3.  Back to cited text no. 10


  [Figure 1], [Figure 2], [Figure 3], [Figure 4]

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