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ISSN: Print -2349-0977, Online - 2349-4387

 Table of Contents  
Year : 2016  |  Volume : 3  |  Issue : 2  |  Page : 107-109

Goldenhar syndrome: A constellation of oculo-auriculo-vertebral malformations requiring a multispecialty approach

Department of Ophthalmology, Post Graduate Institute of Medical Education and Research, Dr. Ram Manohar Lohia Hospital Hospital, New Delhi, India

Date of Web Publication30-Dec-2016

Correspondence Address:
Somya Ish
Department of Ophthalmology, Post Graduate Institute of Medical Education and Research and Dr. Ram Manohar Lohia Hospital, New Delhi
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2349-0977.197217

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Goldenhar syndrome is a rare condition with multiple anomalies involving craniofacial structures including the eyes, ears, and vertebrae. The etiology of this usually unilateral syndrome is unclear. We report a case of Goldenhar syndrome who presented with a limbal dermoid in the left eye and left pre-auricular skin tags. The multisystem aspects of this rare disease have been discussed with emphasis on early diagnosis and multispeciality approach necessary to manage it.

Keywords: Goldenhar syndrome, limbal dermoid, oculo-auriculo-vertebral malformations

How to cite this article:
Ish S, Jain K, Gupta P, Shekhar S. Goldenhar syndrome: A constellation of oculo-auriculo-vertebral malformations requiring a multispecialty approach. Astrocyte 2016;3:107-9

How to cite this URL:
Ish S, Jain K, Gupta P, Shekhar S. Goldenhar syndrome: A constellation of oculo-auriculo-vertebral malformations requiring a multispecialty approach. Astrocyte [serial online] 2016 [cited 2020 Feb 17];3:107-9. Available from: http://www.astrocyte.in/text.asp?2016/3/2/107/197217

  Introduction Top

Goldenhar syndrome, also known as oculo-auriculo-vertebral syndrome (OAVS), is a rare condition with basic pathophysiology of defects in the first and second brachial arches. First reported by Von Arlt in 1881, its detailed description as a congenital defect characterized by the constellation of malformations classically involving the face, eyes, and ears was given in 1952 by Maurice Goldenhar, a renowned Swiss ophthalmologist. [1]

The incidence of Goldenhar syndrome has been reported to be 1:35000-1:56000 with a male predominance. Etiology is not yet fully established. Abnormalities of chromosomes, cells of neural crest origin, consumption of drugs including cocaine, thalidomide, retinoic acid, and alcohol by the mother have also been related to the development of the disease. Maternal diabetes has also been suggested to contribute by poorly understood mechanisms. [2] Clinically, the patient may present with a variety of features ranging from facial abnormalities including the eye and ear, vertebral defects, dental, and cardiovascular complications. In this case report, the multisystem aspects of this rare congenital condition have been discussed with specific emphasis on early diagnosis and a multispecialty approach which is mandatory for proper management.

  Case Report Top

An 8-month old boy presented to the ophthalmology department with the parents complaining of a whitish mass in the left eye since birth, which had not increased in size. They had also noticed abnormal growths on the left cheek and in front of the left ear.

On detailed evaluation, a whitish mass was present on the temporal side of the limbus of the left eye extending from the 3 O'clock to 6 O'clock position [Figure 1]. It was involving 2 mm of the bulbar conjunctiva and 3 mm of the cornea. There was a yellowish pigmentation at the centre of the mass with no abnormal vascularity over it. On palpation, after instilling topical anesthetic drop with a swab stick, it was sessile, nonfriable, and did not bleed on touch. The remaining anterior and posterior segments were within normal limits. Detailed evaluation of the right eye was within normal limits.
Figure 1: Ocular dermoid in the left eye, skin tag in the left cheek, and accessory tragus

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We also noticed a pedunculated skin tag on the left cheek 10 mm temporal to the angle of the mouth and another sessile skin tag (accessory tragus) positioned 1 mm anterior to the left tragus [Figure 2]. Both were non tender, noncompressible, and nonreducible with no vascularity. No pulsations were felt over them.
Figure 2: The limbal dermoid in the left eye and the skin tag seen in the left cheek respecting the vertical meridian

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Antenatal and birth history were uneventful. There was no history of trauma to the head or exposure to teratogenic agents. There was no history of breathlessness, bulging precordium, cyanosis, or repeated episodes of pneumonia to suggest any congenital heart disease. There was no cleft lip and palate, macrostomia, micrognathia, webbing of the neck, short neck, or any deformity in the sternocleidomastoid. There was no family history of similar symptoms or manifestations. Patient was immunized as per the age.

The patient was clinically diagnosed as a case of Goldenhar syndrome in view of it being a multisystem disease; the patient was referred to orthopedics, cardiology, and dental departments.

There were no vertebral anomalies in orthopedic evaluation, echocardiography was normal but advised followed up, and dental opinion suggested mandibular hypoplasia to be followed up later for malocclusion. Patient's parents were explained about the syndrome and advised regular follow-up.

  Discussion Top

Goldenhar syndrome is a rare syndrome, characterized by a triad of accessory tragi, mandibular hypoplasia, and ocular dermoids, all of which were present in our patient. It has an unclear etiology and is believed to occur sporadically, whereas, in some cases, positive family histories have been reported that suggested autosomal inheritance. Some researchers have suggested a multifactorial mode of inheritance due to interaction of multiple genes in combination with environmental factors. Abnormal vascularity of embryo and disorganized mesodermal migration can lead to defective formation of brachial arches and vertebral system producing ill effects on neural crest cell formations, which are essential for the formation of pharyngeal arches. [3]

The hallmark of Goldenhar syndrome includes the characteristic combination of external ear anomalies and ipsilateral facial underdevelopment which was easily evident in our patient. It is unilateral in 85% cases, with the right side more commonly affected than the left. [4] In our case, unilateral facial involvement of the left side was seen.

Systemic involvement in Goldenhar syndrome can vary from cardiovascular anomalies such as tetralogy of Fallot and ventricular septal defect, cleft lip and cleft palate, macrostomia, micrognathia, webbing of the neck, a short neck, and tracheoesophageal fistulas. Although the diagnosis is primarily clinical, radiologic investigations help to support the clinical diagnosis. Prenatal diagnosis is possible with ultrasound. Because no specific genes have been linked to this syndrome, prenatal DNA based testing cannot be used. The differential diagnosis includes other syndromes such as  Treacher Collins syndrome More Details, which is frequently bilateral and has specific mutation for diagnosis, and other extremely rare syndromes such as  Nager syndrome More Details and Townes-Brocks syndrome. Treatment of disease varies with age and according to systemic manifestations. In patients with mandibular and maxillary hypoplasia, reconstruction can be performed. Plastic surgery can correct structural anomalies of the eyes and ears. Surgery for cleft lip and palate can also be done.

  Conclusion Top

Goldenhar syndrome is a constellation of multisystem manifestations, and hence its management is multidisciplinary. This case is being reported to sensitize its rare occurrence and varied manifestations, along with the literature. It is only with further follow-up that the prognosis can be determined, as systemic involvement leads to a guarded prognosis. The importance of early diagnosis and follow-up with timely interventions for a better outcome cannot be overemphasized.

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.

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Conflicts of interest

There are no conflicts of interest.

  References Top

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. 1
Araneta MR, Moore CA, Onley RS, Edmonds LD, Karcher JA, McDonough C, et al. Goldenhar syndrome among infants born in military hospital to Gulf war veterans. Teratology 1997;56:244-51.  Back to cited text no. 2
MathurMV, Mishra RK. Goldenhar syndrome. MJAFI 2000;56:231-2.  Back to cited text no. 3
Kokavec R. Goldenhar syndrome with various clinical manifestations. Cleft Palate Craniofac J 2006;43:628-34.  Back to cited text no. 4


  [Figure 1], [Figure 2]


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