Goldenhar Syndrome

Goldenhar syndrome

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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

* Presented: Dr Reena Sethi, Women in Op* Corresponding author. Tel.: þ91 4116003/4/E-mail address: [email protected]: http://www.acteyecare.org

Please cite this article in press as: Sethj.apme.2015.02.011

http://dx.doi.org/10.1016/j.apme.2015.02.0110976-0016/Copyright © 2015, Indraprastha M

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 andwhite growth in both eyes RE>LE.

hthalmology Meeting 2015, þ91 9810061178 (mobil(A. Sethi).

i R, et al., Goldenhar s

edical Corporation Ltd. A

- 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.

4, Virginia, USA.e).

yndrome, Apollo Medicine (2015), http://dx.doi.org/10.1016/

ll rights reserved.

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http://dx.doi.org/10.1016/j.apme.2015.02.011



Fig. 1 e Right eye dermoid.

Fig. 2 e Left eye dermoid.

Fig. 3 e Right eye slit lamp photo dermoid with hair

appendages.


Please cite this article in press as: Sethi R, et al., Goldenhar sj.apme.2015.02.011

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. 4 e Left eye slit lamp photo dermoid with hair

appendages.




Fig. 5 e Right pre auricular tags.

Fig. 6 e Left pre auricular tags.

Fig. 7 e Right eye post surgical symblephron.

a p o l l o m e d i c i n e x x x ( 2 0 1 5 ) 1e1 1 3


- 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. 8 e Slit lamp photo: Post surgical symblephron.




Fig. 9 e Facial asymmetry. Fig. 11 e Incomplete cleft lip.


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)

Fig. 10 e Incomplete cleft lip.


- 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. 12 e Left eye OCT.

Fig. 13 e Left eye OCT: OD scans.


Please cite this article in press as: Sethi R, et al., Goldenhar syndrome, Apollo Medicine (2015), http://dx.doi.org/10.1016/j.apme.2015.02.011



Fig. 14 e Left eye OCT and fundus photos.

Fig. 15 e MRI: Orbits: Bilateral temporal lipomatous growth.





Fig. 16 e MRI: Orbits: Bilateral temporal lipomatous growth.





Fig. 17 e MRI: Brain: Normal study.





Fig. 18 e MRI: Brain: Normal study.





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.



- 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. 22 e Intraoperative.




Fig. 23 e Intraoperative: On table.

Fig. 24 e Post operative.

Fig. 25 e Post operative.



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. Oculoauriculovertebraldysplasia. 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 deficitsand 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. Caruncleabnormalities in the oculo-auriculo-vertebral spectrum. Am JMed Genet. 2002 Dec 15;113:320e325. Erratum in: Am J MedGenet. 2003 Apr 30;118A(3):304.PubMed ID: 12457402.

5. Das A, Ray B, Das D, Das S. A case of Goldenhaar-Gorlinsyndrome 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 pedunculatedlipodermoid in auriculovertebral dysplasia. Arch Ophthal.1990;108:2032e2033.

7. Pantos RW, Sugar JM. Excision of limbal desmoids. OphthalmicSurg. 1991;22:85e89.

8. Shields JA, Shields CL, De Potter P. Surgical management ofconjunctival tumours. Arch Ophthalmol. 1997;115:505e515.


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Goldenhar Syndrome