Goldenhar syndrome, a term that is often used synonymously with “Oculo-Auriculo-Vertebral (OAV) spectrum”, is a rare disorder that is apparent at birth (congenital). The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. However, such abnormalities tend to involve the cheekbones, jaws, mouth, ears, eyes and/or bones of the spinal column (vertebrae). Although, in most cases, such malformations affect one side of the body (unilateral), approximately 10–33 per cent of affected individuals have such malformations on both sides of the body (bilateral), with one side typically more affected than the other (asymmetry). In the majority of such cases, the right side is more severely affected than the left.

1. Goldenhar syndrome

2. Case Report
Goldenhar syndrome*
Reena Sethi, Arun Sethi*
, Parul Lokwani, Manisha Chalwade
Arunodaya Deseret Eye Hospital, Plot No. NH4, Sector 55, Gurgaon 122003, India
a r t i c l e i n f o
Article history:
Received 19 November 2014
Accepted 2 February 2015
Available online xxx
Keywords:
Goldenhar
Syndrome
Dermoid
Symblephron
a b s t r a c t
Goldenhar syndrome, a term that is often used synonymously with “Oculo-Auriculo-
Vertebral (OAV) spectrum”, is a rare disorder that is apparent at birth (congenital).1,5,6
The
disorder is characterized by a wide spectrum of symptoms and physical features that may
vary greatly in range and severity from case to case. However, such abnormalities tend to
involve the cheekbones, jaws, mouth, ears, eyes and/or bones of the spinal column
(vertebrae).1,6
Although, in most cases, such malformations affect one side of the body
(unilateral), approximately 10e33 per cent of affected individuals have such malformations
on both sides of the body (bilateral), with one side typically more affected than the other
(asymmetry). In the majority of such cases, the right side is more severely affected than the
left.1,7,8
Copyright © 2015, Indraprastha Medical Corporation Ltd. All rights reserved.
1. Introduction
Goldenhar syndrome is a congenital birth defect which in-
volves deformities of the face. It usually affects one side of
the face only. Goldenhar is also known as Oculoauricular
Dysplasia or OAV. Present at birth, it typically affects the
head, face and spine. Symptoms vary greatly and may be
mild or severe. Males are affected more frequently than
females.1e3
2. Case report
- A 15 year old female patient presented with diminution
of vision right eye and white growth in both eyes RE >LE.
- H/O surgery in RE operated at Govt. Hospital, Delhi, 10
years ago for the growth
- H/O recurrence of growth RE within 1 year.
- H/O full term delivery at home, no complaints.
- No h/o HTN, DM.
- No family h/o DM.
- Siblings e normal
2.1. On examination
- V/A (unaided): RE CF 1 Mt, LE 6/6
- EOM: Full BE
Bilateral Dermoid (Figs. 1 and 2).
B/L Dermoids: Slit Lamp Photos.
*
Presented: Dr Reena Sethi, Women in Ophthalmology Meeting 2014, Virginia, USA.
* Corresponding author. Tel.: þ91 4116003/4/5, þ91 9810061178 (mobile).
E-mail address: arunodayai@yahoo.com (A. Sethi).
URL: http://www.acteyecare.org
Available online at www.sciencedirect.com
ScienceDirect
journal homepage: www.elsevier.com/locate/apme
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3. Hair appendages þ BE (Figs. 3 and 4).
Bilateral pre auricular tags (Figs. 5e9).
- Incomplete cleft lip
- Microsmia (Figs. 10 and 11)
OCT and Fundus.
Photos.
- LE
- Temporal pallor þ (Figs. 12e18)
ENT Report.
- Anterior pillar of tonsils congested and
- Palpable submandibular glands s/o Tonsillits
- Rt Ear: pre auricular appendages
- Lt Ear: wet ear with small perforation
Fig. 1 e Right eye dermoid.
Fig. 2 e Left eye dermoid.
Fig. 3 e Right eye slit lamp photo dermoid with hair
appendages.
Fig. 4 e Left eye slit lamp photo dermoid with hair
appendages.
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4. - No palate abnormality (Figs. 19 and 20)
Diagnosis.
- Goldenhar syndrome
- (Oculo-auriculo-vertebral dysplasia) (Fig. 21)
3. Discussion and review of literature
- Oculo-auriculo-vertebral dysplasia (OAV)
- First described in 1952 by Maurice Goldenhar2,4,5
- Associated with anomalous development of the first
and second branchial arch1,3
Fig. 5 e Right pre auricular tags.
Fig. 6 e Left pre auricular tags.
Fig. 7 e Right eye post surgical symblephron.
Fig. 8 e Slit lamp photo: Post surgical symblephron.
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5. Etiologies1e4
- Etiology is unclear; one possible etiology suggested is
that there seems to be a deficiency in mesodermal for-
mation or defective interaction between neural crest
and the mesoderm.
- Some factors are believed to be related to the develop-
ment of the disease.
- Drug ingestion (cocaine, thalidomide, retinoic acid and
tamoxifen)
- Environmental factors (insecticides and herbicides)
- Maternal diabetes
Prevalence1e3
- 1 in 5000e25,000 live births
- Male prevalence
- Most cases are sporadic
- 1e2% of cases report autosomal dominant transmission
- A few families consistent with autosomal recessive
have been reported
3.1. Unique characteristics2,5,6
- Usually characterized by unilateral triad of craniofacial
microsomia, ocular dermoid cysts and spinal
abnormalities
- Ocular anomalies occur in about 50% of cases (epibulbar
dermoid and lipodermoid are most common)
- Auricular defects are reported in 65% of cases (pre
auricular tags, microtia, anotia, conductive hearing loss
- Vertebral anomalies including absence of vertebrae,
hemi vertebrae, fused ribs, kyphosis & scoliosis.
Physical Signs/Symptoms1,4,5
- Unilateral or bilateral Hemi facial microsomia (HFM)
- Microtia; chin may be closer to the affected ear
- Micrognathia
Fig. 9 e Facial asymmetry.
Fig. 10 e Incomplete cleft lip.
Fig. 11 e Incomplete cleft lip.
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6. Fig. 12 e Left eye OCT.
Fig. 13 e Left eye OCT: OD scans.
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7. Fig. 14 e Left eye OCT and fundus photos.
Fig. 15 e MRI: Orbits: Bilateral temporal lipomatous growth.
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8. Fig. 16 e MRI: Orbits: Bilateral temporal lipomatous growth.
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9. Fig. 17 e MRI: Brain: Normal study.
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10. Fig. 18 e MRI: Brain: Normal study.
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11. - Facial clefting
- Cleft lip/palate
- Hearing loss
- Missing eye or benign growths of the eye
Diagnosis1,5
- No Genetic Test
- Through identification of physical anomalies
- Appearance, Skeletal Formations, Hearing Deficits
- Professionals in pediatric medicine, radiology,
ophthalmology, otolaryngology, odontology, and
neurology contribute to the diagnosis
Fig. 19 e X-ray: spine: Partial sacralization of L5 with
pseudoarthrosis on right side.
Fig. 20 e X-ray: spine: Partial sacralization of L5 with
pseudoarthrosis on right side.
Fig. 21 e Oculo-auriculo-vertebral dysplasia.
Fig. 22 e Intraoperative.
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12. Treatment.
- Correction of RE Symblephron6e8
- Treatment of hearing loss or deafness
- Orthodontics: for teeth misalignment (Figs. 22e25)
4. Conclusion
The outlook for children with Goldenhar syndrome varies, but
is generally very positive. Most children can expect to live a
healthy life once treatments have been administered. The
majority can expect to have a normal lifespan and a normal
level of intelligence.2,3,5,6
Consent
Written informed consent was obtained from the patient for
publication of this case report.
Conflicts of interest
All authors have none to declare.
r e f e r e n c e s
1. Korlin R, Jue K, Jacohsen U, et al. Oculoauriculovertebral
dysplasia. J Paediatr. 1963;63:991.
2. Santa Cruz Ruiz S. Goldenhar syndrome: a polymalformation.
Braz Dent J. 2003;14.
3. Stromland K, Miller M, Sjogreen L, et al. Oculo-auriculo-
vertebral spectrum: associated anomalies, functional deficits
and possible developmental risk factors. Am J Med Genet A.
2007 Jun 15;143A:1317e1325. PubMed ID: 17506093.
4. Nijhawan N, Morad Y, Seigel-Bartelt J, Levin AV. Caruncle
abnormalities in the oculo-auriculo-vertebral spectrum. Am J
Med Genet. 2002 Dec 15;113:320e325. Erratum in: Am J Med
Genet. 2003 Apr 30;118A(3):304.PubMed ID: 12457402.
5. Das A, Ray B, Das D, Das S. A case of Goldenhaar-Gorlin
syndrome with unusual association of hypoplastic thumb.
Indian J Ophthalmol. 2008;56:150e152. http://dx.doi.org/10.4103/
0301-4738.39123.
6. Ziauras E, Farbew MCC. Diamond CCA pedunculated
lipodermoid in auriculovertebral dysplasia. Arch Ophthal.
1990;108:2032e2033.
7. Pantos RW, Sugar JM. Excision of limbal desmoids. Ophthalmic
Surg. 1991;22:85e89.
8. Shields JA, Shields CL, De Potter P. Surgical management of
conjunctival tumours. Arch Ophthalmol. 1997;115:505e515.
Fig. 23 e Intraoperative: On table.
Fig. 24 e Post operative.
Fig. 25 e Post operative.
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