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CASE REPORT
Year : 2017  |  Volume : 18  |  Issue : 4  |  Page : 317-320

Goldenhar syndrome with rare clinical features


1 Department of Dermatology, Maulana Azad Medical College, New Delhi, India
2 Department of Dermatology, Hindu Rao Hospital, New Delhi, India

Date of Web Publication29-Sep-2017

Correspondence Address:
Shankila Mittal
101, Ambika Apartments, Sector-14, Rohini, New Delhi - 110 085
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpd.IJPD_110_16

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  Abstract 


Goldenhar syndrome is an uncommon syndrome with malformations of first and second branchial arches. Accessory tragus is a constant feature of this syndrome but may be associated with other syndromes as well. We report a case with a combination of rare findings, i.e., multiple bilateral preauricular skin tags with short stature and mental retardation with maintained facial symmetry.

Keywords: Accessory tragus, Goldenhar, oculoauriculovertebral dysplasia, preauricular skin tags


How to cite this article:
Relhan V, Mittal S, Mahajan K, Garg VK. Goldenhar syndrome with rare clinical features. Indian J Paediatr Dermatol 2017;18:317-20

How to cite this URL:
Relhan V, Mittal S, Mahajan K, Garg VK. Goldenhar syndrome with rare clinical features. Indian J Paediatr Dermatol [serial online] 2017 [cited 2019 Oct 16];18:317-20. Available from: http://www.ijpd.in/text.asp?2017/18/4/317/206051




  Introduction Top


Goldenhar syndrome is an uncommon phenotypically variable syndrome consisting of malformations in the first and second branchial arches. It is diagnosed most commonly as a spectrum involving cardiac, renal, and skeletal systems with features such as accessory tragi, epibulbar dermoids, auricular fistula, and deafness. The exact etiology is unknown. It is believed to be an abnormality of embryonic vascular supply, disrupted mesoblastic development affecting the formation of branchial and vertebral systems.[1]


  Case Report Top


A 5-year-old male child third in the birth order, born out of nonconsanguineous marriage, full-term normal vaginal delivery, presented to us with a chief complaint of protruding lesions present bilaterally on cheeks since birth. Antenatal period was uneventful, and the child cried at birth [Figure 1]. There was a history of delayed dentition with inability to eat solids. Child could only speak bisyllables and was unable to carry out daily activities. Other siblings were unaffected.
Figure 1: Bilateral accessory tragi with epibulbar dermoid (right eye)

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On examination, the child was cooperative, playful, followed commands, and could speak bisyllables. The child weighed 13 kg with a height of 92 cm (short stature normal range: 100–120 cm).

The face was symmetrical with multiple (4 in number) accessory tragi present in front of the bilateral ear and left cheek. Epibulbar dermoid was present in a lower outer quadrant of the right eye not interfering with vision [Figure 2].
Figure 2: Side view: Multiple accessory tragi with epibulbar dermoid of eye

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Intraoral examination revealed partially erupted teeth of upper jaw (hypodontia) with caries and missing lower central incisors [Figure 3].
Figure 3: Hypodontia of upper jaw with absent lower central incisors

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Hearing assessed by pure tone audiometry was normal. Systemic examination was within normal limits.

His blood investigations including hemogram, liver, and kidney function tests were within normal limit except for iron deficiency anemia (hemoglobin = 6.8 g/dl).

Cervical spine X-ray shows straightening of cervical spine with reduced C4–C5 and C5–C6 disc with smooth articular margins suggestive of partially fused vertebra [Figure 4]. Orthopentanogram showed atrophy of the left coronoid process [Figure 5]. Lateral cephalogram was within normal limit. Magnetic resonance imaging brain did not reveal any abnormality.
Figure 4: Straightening of cervical spine with with partially fused C5-C6 vertebra

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Figure 5: Orthopantogram: Cornoid process on left side absent

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The presence of epibulbardermoid cyst, accessory tragus, vertebral anomaly including cervical fusion, dental malocclusion prompted us to make a diagnosis of oculoauriculovertebral (OAV) dysplasia. The patient also had central nervous system involvement in the form of mental retardation.


  Discussion Top


Goldenhar syndrome also known as the OAV syndrome is a morphogenetic anomaly of the branchial arches involving the first and second branchial arches.[2] This syndrome was first reported by von Arlt in 1845 but Goldenhar first clearly defined the syndrome a century later after which the name, Goldenhar syndrome was accepted [3],[4] Goldenhar syndrome is also called hemifacial microsomia, OAV syndrome, and OAV dysplasia. However, Goldenhar syndrome is more widely recognized and commonly used the term.

Most incidences reported have been sporadic however autosomal dominant, autosomal recessive and multifactorial modes of inheritance have also been reported. The incidence of this syndrome is around 1/3500 births.[5] Many chromosomal abnormalities have been found in Goldenhar syndrome such as trisomy 7, 9, or 22; mosaicisms; deletions and unbalanced translocations between chromosome 5 and 8.[6]

It is believed that the malformations are caused by disruption of vascular supply to first and second branchial arches in 4–8 weeks of conception leading to unilateral underdevelopment of facial features.[7] It is characterized by findings such as preauricular skin tags, facial asymmetry, microtia, ocular and vertebral abnormalities. It is a complex developmental disorder involving face, eyes, ears and vertebra, varying in severity in each patient. There is no consensus on the diagnostic criterion, however, it is generally agreed that the syndrome includes two or more of the following: ear malformations (including microtia and accessory tragi), hemifacial microsomia (including micrognathia), epibulbar dermoids and/or coloboma, and vertebral anomalies (fused or cervical hemivertebrae).[8] Other abnormalities reported in Goldenhar syndrome include ophthalmic malformations, cardiovascular, central nervous system, and genitourinary malformations. Mental retardation has been reported in 5%–15% cases.[9]

Multiple accessory tragi in a preauricular/mandibular distribution is one of the most constant findings and is an important diagnostic clue to recognizing the syndrome. The accessory tragus usually seen as a small, skin-colored papule is a common anomaly involving the first (mandibular) brachial arch. It has a prevalence of approximately 1.7/1000 births. It can be soft or cartilaginous, pedunculated or nodular and can occur anywhere in the migratory path of the first two branchial arches.[10] Few other syndromes such as Townes–Brocks syndrome, Treacher–Collins syndrome, VACTERL syndrome, and Wolf–Hirschhorn syndrome are associated with accessory tragi.[11]

Facial involvement is commonly unilateral, with marked asymmetry of facial features, in fact many believe that unilaterality of facial anomalies is the most important hint for diagnosis and in around 30% of cases in which it is not there, other diagnosis like trisomy 13 and oculocererofacial syndrome should be excluded especially if bilateral microphthalmia/anophthalmia and cleft lip/palate are present.[12]

Ear abnormalities like anotia and preauricular tags are the most common seen malformations in Goldenhar syndrome.[13]

Ocular features in Goldenhar syndrome include eccentric or limbal epibulbar dermoid, colobomas (commonly in the upper eyelid), ptosis and strabismus.[14]

Our case had some rarely reported features such as hypodontia, mental retardation, facial symmetry, and short stature prompting us to report this case.

The abnormalities seen in Goldenhar syndrome can adversely affect the patient's life with prompt intervention from birth. Patients may have severe obstructive sleep apnea because of airway disfigurement or jaw problems resulting malnutrition. Eyelid abnormalities can lead to vision problems, while patients with microtia and atresia may require hearing assistance or surgical reconstruction. Treatment is mainly cosmetic in uncomplicated cases.

The prognosis of this syndrome is acceptable in uncomplicated cases. A multidisciplinary approach is required involving otolaryngologists, eye specialists, pediatricians, orthopedics, and dermatologist for a successful outcome. The treatment of Goldenhar syndrome requires a long-term commitment, associated with a need for multiple interventions and procedures during the child's growth.

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.
Reddy MV, Reddy PP, Usha Rani P, Hema Bindu L. Facio-auricular vertebral syndrome: A case report. Indian J Hum Genet 2005;11:156-8.  Back to cited text no. 1
  [Full text]  
2.
Grabb WC. The first and second branchial arch syndrome. Plast Reconstr Surg 1965;36:485-508.  Back to cited text no. 2
    
3.
von Arlt F. Klinische Darstellung der Krankheiten des Teyes. Wien: W. Braunmuller; 1881. [Quoted by Gorlin,et al. 1964].  Back to cited text no. 3
    
4.
Gorlin RJ, Jue KL, Lacobsen Ull, Goldschmidt E. Oculoauriculovertebral dysplasia. J Pediatr 1963;63:991-9.  Back to cited text no. 4
    
5.
Hartsfield JK. Review of the etiologic heterogeneity of the oculo-auriculo-vertebral spectrum (hemifacial microsomia). Orthod Craniofac Res 2007;10:121-8.  Back to cited text no. 5
    
6.
Strömland K, Miller M, Sjögreen L, Johansson M, Joelsson BM, Billstedt E, et al. Oculo-auriculo-vertebral spectrum: Associated anomalies, functional deficits and possible developmental risk factors. Am J Med Genet A 2007;143A: 1317-25.  Back to cited text no. 6
    
7.
Nyberg DA, Jeanty P, Glass I: Syndromes and multiple anomaly conditions. In: Nyberg DA, Mcgahan JP, Pretorius DH, Pilu G, editors. Diagnostic Imaging of Fetal Anomalies. Philadelphia, PA: Lippincott Williams and Wilkins; 2003. p. 153-5.  Back to cited text no. 7
    
8.
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. 8
    
9.
Salmon MA, Lindenbaum RH. Developmental Defects and Syndromes. London: HMM Publishers; 1978. p. 40.  Back to cited text no. 9
    
10.
Pridjian G, Gill WL, Shapira E. Goldenhar sequence and mosaic trisomy 22. Am J Med Genet 1995;59:411-3.  Back to cited text no. 10
    
11.
Bahrani B, Khachemoune A. Review of accessory tragus with highlights of its associated syndromes. Int J Dermatol 2014;53:1442-6.  Back to cited text no. 11
    
12.
Martinelli P, Maruotti GM, Agangi A, Mazzarelli LL, Bifulco G, Paladini D. Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum. Ultrasound Obstet Gynecol 2004;24:199-201.  Back to cited text no. 12
    
13.
Tasse C, Böhringer S, Fischer S, Lüdecke HJ, Albrecht B, Horn D, et al. Oculo-auriculo-vertebral spectrum (OAVS): Clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet 2005;48:397-411.  Back to cited text no. 13
    
14.
Jakobiec FA, Pineda R, Rivera R, Hsu-Winges C, Cherwek D. Epicorneal polypoidal lipodermoid: Lack of association of central corneal lesions with Goldenhar syndrome verified with a review of the literature. Surv Ophthalmol 2010;55:78-84.  Back to cited text no. 14
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]



 

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