|Year : 2016 | Volume
| Issue : 4 | Page : 284-287
Goldenhar-Gorlin syndrome: A rare case report with review of literature
Kundoor Vinay Kumar Reddy, Anurag Ellaki, Kotya Naik Maloth, Kesidi Sunitha
Department of Oral Medicine and Radiology, Mamata Dental College and Hospital, Khammam, Telangana, India
|Date of Web Publication||13-Oct-2016|
Kotya Naik Maloth
Department of Oral Medicine and Radiology, Mamata Dental College and Hospital, Giriprasad Nagar, Khammam - 507 002, Telangana
Source of Support: None, Conflict of Interest: None
Goldenhar-Gorlin syndrome (GGS) is a rare developmental anomaly, characterized by numerous anomalies affecting the first and second brachial arches which results in hemifacial atrophy in majority of cases (85%) and associated with cervical spine vertebral deformities, cardiovascular malformation, and sternocleidomastoid muscle abnormalities. Hereby, we report such a rare case of GGS in a 20 year old male patient, with all these classical features.
Keywords: First arch syndrome, Hemifacial microsomia, Oculo-auriculo-vertebral dysplasia
|How to cite this article:|
Reddy KV, Ellaki A, Maloth KN, Sunitha K. Goldenhar-Gorlin syndrome: A rare case report with review of literature. Indian J Otol 2016;22:284-7
| Introduction|| |
Goldenhar-Gorlin syndrome More Details (GGS) is a rare hereditary condition, characterized by numerous anomalies affecting the first and second brachial arches which result in hemifacial atrophy in majority of cases (85%) and associated with cervical spine vertebral deformities.  This rare condition was first observed by Canton in 1861, and later by Von Arlt in 1881; however, it went unnoticed till 1952 , which was first described by the French ophthalmologist Maurice Goldenhar thus it came to be known as Goldenhar syndrome (GS).  The incidence has been reported 1 in 3500 live births, with a male predominance (3:2).  The exact etiology of this rare condition is not fully understood, but various authors hypotheses have been proposed and explained the etiopathogenesis.  Majority of the cases have been sporadic and multifactorial modes of inheritance. 
| Case Report|| |
A 20-year-old male reported to the department with a chief complaint of pain in his right upper back tooth region since 3 days. His past medical history revealed right side placement of heart and gave history of an eye surgery on left side 10 years back. Family history was noncontributory. On extra oral examination facial asymmetry was detected on left side with preauricular skin tags on both right and left sides and midline shifted to affected side [Figure 1]a-c, bradycephalic head, atresia of the external auditory canal with deafness of left ear, abnormality of sternoclediomastoid muscle on left side, short neck, webbing of the neck [Figure 2], and webbing of the fingers [Figure 3]. Intraoral examination revealed high arched palate with narrowing of upper and lower arches, dental caries in relation to 37, 27, and 17. On radiographic investigation panoramic radiograph revealed hypoplasia of the mandibular ramus, condyle, and coronoid process with prominent antigonial notch on the left side [Figure 4], posterior-anterior view revealed hypoplasia of the left mandible [Figure 5] and chest radiograph revealed right side shift of heart (dextrocardia) and scoliosis [Figure 6]. Correlating with clinical and radiographic findings a diagnosis of GGS was made. Treatment plan comprised endodontic treatment of 37, 27, 17, and oral prophylaxis.
|Figure 1: Profile picture (a), preauricular skin tags on left (b) and right (c)|
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|Figure 4: Orthopantamogram revealed hypoplasia of the mandibular ramus, condyle and coronoid process with prominent antigonial notch on the left side|
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|Figure 5: Postero-anterior-view revealed hypoplasia of the left mandible|
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|Figure 6: Chest radiograph revealed right side shift of heart and scoliosis|
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| Discussion|| |
GGS is a rare developmental anomaly with incomplete development on affected side. The classical features of this syndrome show facial abnormalities such as ocular, auricular, vertebral malformations, and other associated systemic abnormalities such as uriogenital malformations, cardiovascular, and CNS.  Maurice Goldenhar, the French ophthalmologist, was the first person to described this rare syndrome in 1952 with a combination of various anomalies such as dermal epibulbar tumors, auricular malformation; thus it came to be known as GS.  Later, in 1963, Gorlin included vertebral anomalies as one of the manifestations of this syndrome, thus it is known as oculo-auriculo-vertebral (OAV) syndrome. 
GGS is a rare congenital developmental anomaly involving various facial and systemic tissues, so it is also known as GGS, facio-auriculo-vertebral dysplasia, unilateral craniofacial microsomia, auriculo-bronchogenic dysplasia, first arch syndrome, lateral facial dysplasia, velocardiofacial syndrome, unilateral mandibulo-facial dysostosis, unilateral intrauterine facial necrosis, otomandibular dysostosis, facio-auriculo-vertebral malformation complex. ,
The exact etiology of this rare syndrome is not known, but various hypotheses have been proposed to explain the etiopathogenesis of this syndrome. In 1964, Gorlin and Pindborg suggested that some abnormal process affecting the mesoblasts embryologically resulting this syndrome. In 1970, Krause suggested defect in hereditary pattern affecting a brother and sister.  In 1971, Jong Bloet suggested that Goldenhar's syndrome may be a result of fertilization of an overripe ovum. In 1973, Baum and Feingold  stated it may be a sporadic origin occurs early in embryogenesis. Some previous reports of familial cases suggested that having history of consanguineous marriage resulting of autosomal recessive, dominant, or multi factorial inheritance.  In 1976, Poswillo demonstrated using an animal model and stated that hematoma in the region of the ear resulting from maternal fetal hypoxia, hypertension, and anticoagulants can cause differentiating tissue leading to bronchial arch dysplasia.  In 1984, Gomez et al. stated that cholecystography; a radiologic intervention done in fourth and sixth weeks of pregnancy could be a causative factor of the syndrome.  Multiple chromosomal mutations resulting this syndrome, the most significant of which are 3del (5p), del (6q), trisomy 7 mosaicism del (8q) (161), trisomy 9 mosaicism (166), trisomy 18 (14,58), trisomy 22, recombinant chromosome 18, del (18q), ring 21 chromosome, del (22q), dup (22q), 49, XXXXX, 49, XXXXY, and 47, XXY.  The ingestion of certain drugs such as thalidomide, tamoxifen, cocaine, and retinoic acid during pregnancy can be resulting this syndrome. Maternal diabetes, rubella, and influenza have also been suggested as an etiological factor. 
The clinical features of this syndrome were incomplete development on the affected side. GS has been reported in 1 out of 3500 live births, with a male predominance (3:2), occurring in 85% of cases unilaterally and 10%-33% bilaterally with predominance on right side of the face,  but in the present case, it was on left side of the face. The present case exhibited complex clinical characteristics of this syndrome as described in the literature such as facial asymmetry, hypoplasia of the mandible on affected side, ocular changes such as microphthalmia, auricular malformation like preauricular tags, atresia of the external meatus on left side resulting in complete hearing loss (deafness) and microtia, vertebral anomalies such as scoliosis.  GGS is associated with cardiovascular malformation (dextrocardia) in 5%-58% of cases, which was noted in the present case, webbing of the fingers, short neck, and sternocleidomastoid muscle abnormalities were also seen in the present case and other features such as cleft lip and palate, dermal epibulbar tumors, palpebral alterations, trachea-esophageal fistula were not observed.
The diagnosis of this syndrome mainly based on clinical and radiographical findings,  and it should be differentiated from other syndromes arising from aberrations in the first and second brachial arches such as Treacher-Collins syndrome, Townes-Brocks syndrome, branchio-oto-renal syndrome, Wildervanck syndrome (cervico-oculo-acoustic syndrome), maxillofacial dysostosis, Nager's acrofacial dysostosis, Delleman syndrome, characteristics of the VATER association (vertebral anomalies, ventricular septal defect, anal atresia, T-E fistula with esophageal atresia, and radial and renal dysplasia), CHARGE association (coloboma, heart disease, atresia choanae, retarded growth and development, genital anomalies, and ear anomalies and/or hearing loss), MURCS association (Mullerian duct aplasia, renal aplasia, and cervicothoracic somite vertebral dysplasia) overlap with the OAV dysplasia and various first arch syndromes. ,,
The treatment for this syndrome varies with age and systemic condition as well as severity. The successful treatment requires a multidisciplinary approach. In mild cases without any systemic involvement, the prognosis is good, where jaw reconstruction surgeries can be performed and structural anomalies of the eyes and ears can be corrected by plastic surgery. 
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.
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]