hemifacial microsomia: Goldenhar Syndrome

Introduction: Goldenhar syndrome, also known by hemifacial microsomia, hemifacial hypoplasia, craniofacial microsomia, lateral facial dysplasia, and occuloauriculovertebral dysplasia, is a rare inherited condition with multifactorial aetiopathogenesis.1 A German-Austrian ophthalmologist, Carl Ferdinand Von Arlt had first ever described this condition in the year 1845.2 A French ophthalmologist, Maurice Goldenhar had described this condition in the year 1952 as a disease with several anomalies including dermal epibulbar tumors, peri-auricular appendices and malformation of the ears.3 In addition to the clinical features described by Goldenhar (1952) and Gorlin (1963), Goldenhar syndrome was presented with heart diseases and hypoplasia of the zygomatic, mandibular and maxillary bones.4 Facial muscle hypoplasia, abnormal morphology and anatomy of tongue, abnormalities associated with vertebral column, anomalies of eye, lip and cleft palate, central nervous system disturbances and other visceral anomalies have also been reported as manifestation of the syndrome.5 The syndrome presents with an incidence rate ranging from 1:3500 to 1:5600 with male:female ratio of 3:2.6 The pathogenesis of the syndrome includes autosomal dominant, recessive and multifactorial modes of inheritance.2 Disturbance in the neural crest cells has also been studies as one of the pathogenesis of the disease.7 Ingestion of drugs like cocaine, thalidomide, retinoic acid, and tamoxifen during pregnancy is suggested to be an aetiology for Goldenhar synfrome.8 The syndrome may also be a result of maternal diabetes or infections caused by rubella and influenza during gestation.2 Here, we report a case with hemifacial microsomia and presenting with the clinical and radiographic features associated with Goldenhar syndrome.
Case report: A 24 years old male patient reported to the department of oral medicine and radiology with a chief complaint of pain in upper left back tooth region since 20 days. The pain is dull aching, continuous, non radiating in nature, aggravates mainly on eating food and relieves only after having medication. Any other associated complaint like swelling, ulceration was absent. The patient had given a history of extraction of a decayed tooth around one month back in the lower left back tooth region. The patient had also given the history of asymmetrical face, i.e, deviated face towards right side which is present since birth. Also, under-developed right ear with hearing defect was present. The patient had given no history of consanguineous marriage between his parents. Also, all his siblings and cousins were normal without any deformity. On general physical examination, limping while walking was present with the right leg. The right ear lobule is under developed, smaller in size and is slightly downward placed as compared to the left ear (figure 1). All the vital signs were within the normal limits. The extraoral examination reveals an asymmetrical facial profile with deviation towards right side. There is fullness of face seen on the left side of face with a mild depression seen on the right side giving an impression of under developed mandible on the right side. The chin is deviated towards the right side with depression in the parasymphysis region on right side. There is also an under developed ear with mildly downward placement of the ear lobule. The temporo-mandibular joint did not present with any clicking or popping sound or any tenderness bilaterally. Lymph nodes were non tender and non palpable. On intraoral examination, tooth 17 and 27 were found to be decayed with vertical tender on percussion and vestibular tenderness positive in 27. Tooth 36, 46 were found clinically missing. Buccal mucosa, labial mucosa and palatal mucosa were all presented as normal. The palatal vault with maxillary arch and the mandibular arch were slightly deviated towards right side. The occlusal plane is canted up to the right side (figure 2,3). A shift in the midline towards right side is also seen (figure 4). Orthopantomograph revealed an under-developed condylar process, coronoid process, ramus of the mandible with steep curvature at the mandibular angle on the right side. Dental development was normally present with missing 36 and 46 and carious irt 17 and 27 (figure 5). Lateral cephalogram (figure 6), lateral skull view (figure 7) and postero-anterior view of skull (figure 8) revealed a reduced size of the skull with hypoplasia of condylar and coronoid process and the ramus of mandible with a shift of the mid-saggital plane towards the right side. The hand wrist radiograph (figure 9) shows fused epiphyseal joint in the middle finger. Hence, on the basis of history, clinical and radiographic examination, the patient was diagnosed with Goldenhar syndrome.

figure 1 showing both ear lobes at different levels
maxillary arch
mandibular arch
midline shift

lateral cephalogram
lateral skull view
PA view
hand wrist radiograph

Discussion: Goldenhar syndrome is a complex of aural, craniofacial, ocular and vertebral anomalies. This was first differentiated from hemifacial microsomia in the year 1952. In addition to the aural abnormalities, patient is also seen to be affected with cardiac, renal, and neurological abnormalities.9 According to many of the authors, the clinical examination is as important in the diagnosis of Goldenhar syndrome as the radiologic or laboratory examination.10 The presence of microtia (ear abnormalities) and appendices on the ear are the primary factors in the diagnosis of the syndrome, as stated by some of the authors. Also, facial asymmetry with mandibular hypoplasia, dermal epibulbar tumors, palpebral alterations, vertebral anomalies, lateral facial clefts, and renal defects may be observed in a case of Goldenhar syndrome.11
The patient exhibited complex characteristics of the syndrome including presence of microtia, facial asymmetry, mandibular hypoplasia, hearing defects in the affected side of the ear. Facial asymmetry and mandibular hypoplasia are the typical features of the syndrome. Vestiges of cleft lip is seen only on 5% of the cases4 and is absent in our case too. No cardiovascular alterations were found in our case though it is seen to be present in 5-58%.12 Hearing defect in deafness of the affected ear is present, which has a high prevalence in Goldenhar syndrome.
Emphasis should be given on the fact that no previous familial report was present for the patient. This lack of familial occurrence may suggest that this syndrome is a sporadic event that occurs early in embryogenesis. Some teratogenic agents such as vitamin A, primidone, thalidomide, and cocaine as well as malnutrition, tobacco, and herbicides that are able to produce free radicals which may break the DNA and consequently result in congenital malformations have been found to be associated with the development of this syndrome.6 The absence of genetic factors in the Goldenhar syndrome helps in differentiating it with Treacher Collin’s syndrome.13
The study of this condition is still controversial because of its complexity and broad clinical aspects.

References
1. Stuart C. White, Michael J.Pharoah. Oral Radiology- Principles and Interpretation. 6th edition
2. Costea CF, Rusu C, Ivănescu CG, Dumitraș S, Dimitriu G, et al. Goldenhar Syndrome. J Clin Res Ophthalmol. (2015); 2(3):041-044.
3. Barbosa A L, Cavalcanti L, Baptista S. Goldenhar’s syndrome- Case report. Braz Dent J. 2003;14(1): 67-70
4. Oski FA, de Angelis CA, Feigin RD, Warshaw JB. Síndromes comuns com anormalidades morfológicas. Princípios e Prática de Pediatria. Rio de Janeiro: Guanabara Koogan; 1990. 482.
5. Lessick M, Vasa R, Israel J. Severe manifestations of oculoauriculovertebral spectrum in a cocaine-exposed infant. J Med Gen. 1991;28:803-804.
6. Kulkarni VV, Shah MD, Parikh AA (1985) Goldenhar syndrome (a case report). J of Postgrad Med. 31: 177-179.
7. Rodríguez JI, Palacios J, Lapunzina P. Severe axial anomalies in the oculo-auriculo-vertebral (Goldenhar) complex. Am J Med Gen. 1993;47:69-74.
8. Lessick M, Vasa R, Israel J (1991) Severe manifestations of occuloauriculovertebral spectrum in a cocaine-exposed infant. J Med Genet. 28: 803-804.
9. A.D. Baugh et al. International Journal of Pediatric Otorhinolaryngology. 2015; 79:356–358
10. Araneta MRG, Moore CI, Onley RS, Edmonds LD, Karcher JA, McDonough C, Hiliopoulos KM, Schlangen KM, Gray GC. Goldenhar syndrome among infants born in military hospital to Gulf war veterans. Teratology. 1997;56:244-251.
11. Ostlere SJ, MacDonald B, Athanasou NA. Mesenchymal chondrosarcoma associated with Goldenhar’s syndrome. Arch Orthop Trauma Surg. 1999;119:347-348.
12. Nakajima H, Goto G, Nakata N. Goldenhar syndrome associated with various cardiovascular malformations. Jnp Circ J. 1998;62:617-620.
13. Schafer WG, Hine MK, Levy BM. Tratado de patologia bucal. 4th ed. Rio de Janeiro: Interamericana; 1985. p 631.

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