Year : 2009 | Volume
: 27 | Issue : 2 | Page : 121--124
Craniofacial features in Goldenhar syndrome
C Vinay1, R Sudhakara Reddy2, KS Uloopi1, V Madhuri1, R Chandra Sekhar1,
1 Department of Pedodontics and Preventive Dentistry, Vishnu Dental College and Hospital, Bhimavaram - 534202, Andhra Pradesh, India
2 Department of Oral medicine and Radiology, Vishnu Dental College and Hospital, Bhimavaram - 534202, Andhra Pradesh, India
Department of Pedodontics and Preventive Dentistry, Vishnu Dental College, Bhimavaram - 534 202, Andhra Pradesh
Goldenhar syndrome also known as oculo-auriculo-vertebral syndrome was first reported by Dr Maurice Goldenhar in 1952. It is a rare disease entity characterized by craniofacial anomalies such as hypoplasia of the mandible and malar bones, microtia, and vertebral anomalies. The etiology of this disease still remains unclear and occurs as sporadic. This report presents goldenhar syndrome in a 12-year-old male patient.
|How to cite this article:|
Vinay C, Reddy R S, Uloopi K S, Madhuri V, Sekhar R C. Craniofacial features in Goldenhar syndrome.J Indian Soc Pedod Prev Dent 2009;27:121-124
|How to cite this URL:|
Vinay C, Reddy R S, Uloopi K S, Madhuri V, Sekhar R C. Craniofacial features in Goldenhar syndrome. J Indian Soc Pedod Prev Dent [serial online] 2009 [cited 2019 Aug 17 ];27:121-124
Available from: http://www.jisppd.com/text.asp?2009/27/2/121/55339
Goldenhar syndrome also known as oculo-auriculo-vertebral (OAV) syndrome is a congenital defect characterized by a heterogenous constellation of malformations classically involving the face, eyes, and ears. This condition was first described by Dr Maurice Goldenhar in 1952.  In 1963, Gorlin et al . named this syndrome as oculo-auriculo-vertebral syndrome due to the presence of additional vertebral anomalies.  The incidence of goldenhar syndrome has been reported to be 1:3500-1:5600 with a male to female ratio of 3:2. 
The disease is seen as sporadic and its etiology is not fully understood; however, positive family histories have been reported suggesting autosomal dominant or recessive inheritance. Some researchers have suggested that multifactorial inheritance are caused by the interaction of many genes, possibly in combination with environmental factors. ,
Goldenhar syndrome is typically associated with the anomalous development of structures that originate from the first and second branchial arch. The affected individual's face may appear smaller on one side than the other due to craniofacial malformations. Patients with goldenhar syndrome may exhibit a wide range of anomalies that includes eye anomalies (micropthalmos, coloboma, epibulbar dermoid, and lipodermoid malformations); ear anomalies (microtia, atresia, ear appendices, and fistulas); vertebral and congenital heart anomalies; cleft lip/cleft palate, facial asymmetry, developmental dental disturbances, and mental retardation. ,,,
A 12-year-old boy reported to the department of Pedodontics and Preventive dentistry with the complaint of irregularly placed teeth. The patient was born to non-consanguineous parents and his elder sibling is normal. History revealed pregnancy and birth were uneventful. On extra oral examination, the patient presented with facial asymmetry, hypoplasia of the mandible, and retrusion of the midface with loss of malar prominence on the right side. The right orbit was depressed and smaller. The angle of the mouth was deviated toward the right. There was marked deviation of the nasal septum toward the right side due to which the patient had difficulty in breathing through the nose with profound nasal discharge, and the patient was found to be a mouth breather [Figure 1]. A soft tissue deformity was also seen involving the right ear. Examination of the scalp revealed an open anterior fontanel. The palpable right and left submandibular lymph nodes were mobile, soft in consistency, and non-tender. No signs of mental retardation or neurological problems were detected.
Intraoral examination revealed a V-shaped high arched palate and Angle's class III malocclusion with crowding of both maxillary and mandibular anterior teeth and anterior open bite. The angle of the mouth deviated toward the right side on opening. The tongue was large and deviated toward the right side on protrusion, and there was atrophy of papilla on the anterior third of the tongue [Figure 2]. Adenoids were enlarged on both sides. No developmental disturbances of the teeth were found and 11, 21, and 46 were carious. The child had chronic generalized gingivitis associated with poor oral hygiene.
The patient was referred to an ophthalmologist, a cardiologist, and an ENT surgeon for further investigations. On ophthalmic examination, the patient was diagnosed with right-sided exotropia, vascularized corneal opacity with loss of corneal sensation in the right eye. Routine cardiac examination and an echocardiogram showed no cardiac abnormality. Otic examination showed microtia of the right auricle, preauricular tags of cartilaginous masses; however, there was no deformity in the ear canal. Anomaly of the external auditory meatus or hearing impairment was not observed.
Orthopantomograph revealed hypoplasia of the condyle, ramus, and body of the mandible with accentuation of the antegonial notch on the right side [Figure 3]. Lateral cephalogram showed a high mandibular angle with a clockwise rotation indicating increased vertical growth [Figure 4]. Water's view x-ray revealed deformity of the right orbit and deviated nasal septum toward the right [Figure 5]. AP and lateral view x-ray of thoracic lumbar spine and cervical spine revealed no vertebral anomalies as diagnosed by the radiologist.
The child's parents were informed about the requirement of multidisciplinary treatment approach due to the wide range of anomalies. The oral hygiene status of the patient improved after thorough oral prophylaxis reinforced with oral hygiene instructions and restoration of the carious teeth. Requirement of extensive orthodontic intervention and also the probable necessity of surgical correction after cessation of growth for the correction of deformed occlusion was suggested. During the course of time, the patient underwent otoplasty for the correction of microtia by a plastic surgeon. The patient had also consulted an ophthalmologist who had suggested corneal transplant surgery with regard to his eye anomalies.
Facio-auriculo vertebral syndrome was first recorded by a German physician, Carl Ferinand Von Arit, in 1845.  In 1952, Goldenhar described a patient with a triad of accessory tragic, mandibular hypoplasia, and ocular dermoids which he called as the goldenhar syndrome. 
The study of this condition is still controversial because the symptoms and the physical features may vary greatly in range and severity from case to case. The characteristic combination of external ear anomalies and ipsilateral facial underdevelopment is the hallmark of this syndrome , as noticed in our patient. In most cases, such malformations affect one side of the body; nevertheless, in 10-33% of affected individuals, both sides of the body were involved with one side typically more affected than the other side. It was reported that the right side is more severely affected than the left as seen in the present case. 
The exact etiology is not yet known; however, Soltan and Holmes  suggested a link between genetic causes and vascular disruption in goldenhar syndrome. This anomaly may also result from fetal hemorrhage in the region of the first and second brachial arches at the time when blood supply of these arches switches from the stapedial artery to the external carotid artery.  Kallen et al  related the pathogenetic mechanism of OAV to disturbance in the neural crest development. 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 possible etiological factors. , In our case, the etiology appears unclear and there was no history of maternal drug intake, any febrile illness during pregnancy.
Facial asymmetry and hypoplasia of the mandible are typical features of OAV syndrome.  The present patient showed marked malar and mandibular hypoplasia with mal-alignment of the teeth and also microtia and preauricular tags among the various craniofacial anomalies. The eye abnormalities reported in this case included strabismus and corneal opacity, while other eye anomalies such as coloboma, epibulbar dermoid, and lipodermoid malformations were absent. Although the vertebral anomalies may include hypoplasia, fusion or absence of certain vertebra, no vertebral anomalies were detected in our patient. In addition associated skeletal, neurological, cardiac, pulmonary, kidney, and/or gastrointestinal abnormalities have been reported., Despite the reported frequency of cardiovascular alterations ranging from 5 to 58%,  no cardiac abnormality was found in this patient.
Due to the complexity and varying severity and expression of OAV spectrum, some researchers suggest that goldenhar syndrome actually presents different levels of severity of the OAV spectrum.  In our case, the patient exhibited clinical characteristics of goldenhar syndrome including facial asymmetry, hypoplasia of the mandible and malar bones, preauricular tags, microtia, and strabismus. Based on the overall clinical and radiographic features, we made a confirmatory diagnosis as goldenhar syndrome.
Management of goldenhar syndrome requires a multidisciplinary approach to provide the most appropriate treatment. In patients with jawbone hypoplasia, reconstruction can be done by distraction osteogenesis and reconstruction with bone grafts. Structural anomalies of eyes and ears can be corrected by reconstructive surgery. These individuals typically have a normal lifespan, though the prognosis varies depending on the severity of the systemic associations.
|1||Goldenhar M. Associations malformatives de l'oeil et l'oreille, en particulier le syndrome dermoide épibulbaire-appendices auriculaires-fistula auris congenita et ses relations avec la dysostose mandibulo-faciale. J Genet Hum 1952;1:243-82.|
|2||Gorlin RJ, Pindborg JJ. Oculoauriculovertebral dysplasia. In: Syndromes of the head and neck. New York: McGraw-Hill; 1964. p. 546-52.|
|3||Grabb WC. The first and second brachial arch syndromes. Plast Reconstr Surg 1965;36:485-508.|
|4||Kulkarni VV, Shah MD, Parikh AA. Goldenhar syndrome: A case report. J Postgrad Med 1985;31:177-9.|
|5||Gorlin R, Jue K, Jacohsen U, Goldschmidt E. Oculoauriculovertebral dysplasia. J Pediatr 1963;63:991-9.|
|6||Pierpont ME, Moller JH, Gorlin RJ, Edwards JE. Congenital cardiac, pulmonary and vascular malformations in oculoauriculovertebral dysplasia. Pediatr Cardiol 1982;2:297-302.|
|7||Bayraktar S, Bayraktar ST, Ataoglu E, Ayaz A, Elevli M. Goldenhar's syndrome associated with multiple congenital anomalies. J Trop Paediatr 2005;51:377-9.|
|8||Taksande A, Vilhekar KY, Jain M. Atypical presentation of Goldenhar syndrome. J MGIMS 2006;11:45-52.|
|9||Trivedi HL, Murade S, Harne S, Aarbhave V. Incomplete presentation of Goldenhar syndrome. Bombay Hosp J 2007;49:519-21.|
|10||Reddy MV, Reddy PP, Usha Rani P, Hema Bindu L. Facioauricular vertebral syndrome: A case report. Indian J Hum Genet 2005;11:156-8.|
|11||Soltan HC, Holmes LB. Familial occurrence of malformations possibly attributable to vascular abnormalities. J Pediatr 1986;108:112-4.|
|12||Ryan CA, Finer NN, Ives E. Discordance of signs in monozygotic twins concordant for the Goldenhar anomaly. Am J Med Genet 1988;29:755-61.|
|13||Kallen K, Robert E, Castilla EE, Mastroiacovo P, Kallen B. Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS). Am J Med Genet 2004;127A:26-34.|
|14||Mehta B, Nayak C, Savant S, Amladi S. Goldenhar syndrome with unusual features. Indian J Dermatol Venereol Leprol 2008;74:254-6.|
|15||Nakajima H, Goto G Tanaka N, Ashiya H, Ibukiyama C. Goldenhar Syndrome associated with various cardiovascular malformations. Jpn Circ J 1998;62:617-20.|
|16||Schaffer AJ, Avery ME. Doenças do Recém-Nascido. 4th ed. São Paulo: Interamericana; 1979. P. 803.|
|17||Pinheiro AL, Araújo LC, Oliveira SB, Sampaio MC, Freitas AC. Goldenhar's syndrome: Case report. Braz Dent J 2003;14:67-70.|