|Year : 2021 | Volume
| Issue : 2 | Page : 131-133
Goldenhar syndrome with new oral findings!
Vela D Desai
Department of Oral Medicine and Radiology, Jaipur Dental College, Jaipur, Rajasthan, India
|Date of Submission||16-Oct-2019|
|Date of Decision||01-Nov-2019|
|Date of Acceptance||23-Nov-2019|
|Date of Web Publication||27-Oct-2021|
Vela D Desai
B-4O6, Trimurthy Apartment, Opposite BSNL Telecom Colony, Malviya Nagar, Jaipur - 302 017, Rajasthan
Source of Support: None, Conflict of Interest: None
Goldenhar syndrome (GS) is a condition with a multitude of abnormalities, classically involving ocular and ear defects, hemifacial microsomia, and vertebral anomalies, which may also be associated with cardiovascular and renal malformations. It is a rare congenital anomaly of unclear etiology. The purpose of reporting this case of a 16-year-old boy with GS is, to update, the existing literature of new oral findings observed.
Keywords: Medical evaluation, multidisciplinary approach, supernumerary teeth, syndrome
|How to cite this article:|
Desai VD. Goldenhar syndrome with new oral findings!. CHRISMED J Health Res 2021;8:131-3
| Introduction|| |
Goldenhar syndrome (GS) or fascio-auriculo-vertebral dysplasia or oculo-auriculo-vertebral syndrome is a sporadic or autosomal dominant inherited genetic rare syndrome. It is characterized by mandibular hypoplasia, facial asymmetry, low set ear or atresia of ear canal, preauricular skin tags, hemivertebra in the cervical region, epibulbar dermoid, coloboma of upper eyelid and limb dermoids. GS is also associated with cardiac abnormalities, and other systemic abnormalities. The facial involvement, usually predisposing to the right side. There may be a more complex phenotypic abnormality with the skeletal, cardiac, renal, and pulmonary systems.,,, There are many cases reported in the literature representing classical findings and also variations. This case reports a supplementary maxillary segment with dentition and tuberosity, which is seldom reported in the literature.
| Case Report|| |
A 16-year-old boy [Figure 1] reported to the department of oral medicine and radiology with a complaint of malaligned teeth since birth. This was his first visit to any doctor. His detailed medical history revealed that he was born at full term. There was no history of consanguineous marriage. His mother did not report any consumption of medication during pregnancy, and it was a normal delivery. At birth, the patient had a soft tissue skin tag at the left corner of mouth, which was removed immediately without any complication. He has four siblings, and none of them presented with similar findings. He is the fourth sibling with normal built and nourishment. He was well oriented and with normal gait. History of speech defect was reported since childhood by the parents.
Extraoral examination presented with asymmetry of the face and left hemifacial microsomia, macrostomia, incompetent lips, deviated nasal septum, and abnormality in the left eye (microphthalmia and low set eye) [Figure 1]. The patient is blind with his left eye since birth. On examination, there was a soft tissue growth with the same eye with surface appearing light-to-dark brown that appeared like skin, projecting outward [Figure 2]. On palpation, it was soft and nontender suggestive of an epibulbar dermoid. The left outer and inner canthal areas also appeared differently. There was asymptomatic bony prominence palpated on the left malar region [Figure 1].
On intraoral examination, there were cleft soft palate and uvula unilaterally on the left side [Figure 3]. There appeared like three distinct uvula. Patient's family gave a history of nasal regurgitation of fluids since his childhood. Teeth were maligned and had anterior proclination. There were yellowish-brown extrinsic stains secondary to dental fluorosis on the teeth. In the first quadrant, there were over-retained 55 and three supernumerary para premolars [Figure 4]. Second quadrant presented with five extra supernumerary teeth in a separate supplementary segment of arch and a tuberosity distal to the clinically present 28 and tuberosity [Figure 5]. Clinically missing 35 and over-retained 75 were evident on clinical examination. After the consent of the parents, the subject was advised for an orthopantomograph (OPG) and upper anterior topographic occlusal radiograph. OPG revealed full set of permanent dentition along with deciduous second molar in the first and third quadrants. Impacted supernumerary, distal to 28, and impacted 35 in the third quadrant was appreciable. Right and left mandibular fossa had variation in the presentation as shown in [Figure 6], and prominent zygomatic bone extending from the left articular eminence was evident radiographically. Both the views [Figure 7] also showed a breach in the upper arch distal to 28 as an alveolar cleft. An accessory alveolar arch was appreciated distal to the same. An accessory maxillary tuberosity was also appreciated on the left side. A provisional diagnosis of GS was considered and referred for complete systemic evaluation and investigation required.
|Figure 6: Orthopantomograph of the patient depicting multiple supernumerary erupted teeth|
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|Figure 7: Maxillary occlusal radiograph showing multiple supernumerary teeth in the posterior region|
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Only after written consent from cardiologist, respiratory, ophthalmic, speech therapist, ear-nose-throat specialist, specialist for cleft lip palate, and plastic surgeons, other dental treatment can be proceeded with, as it required a multidisciplinary approach and as it was the patient's first visit to any doctor. The subject and his family were educated about the condition and its nature of presentation. They were counseled about the psychological effects the patient would have, which in turn would affect the overall development of the patient and his well-being.
| Discussion|| |
This condition was first described by the German Physician Carl Ferdinand Von Arltin in 1845. Dr. Maurice Goldenhar, in 1952, recognized this as a syndrome. Gorlin, in 1963, described this syndrome with vertebral anomalies. It is also associated with anomalies of central nervous system, visceral, cardiac, and gastrointestinal tract anomalies, and calcification of falx cerebri.
In 1976, due to the significant overlap in symptoms of hemifacial microsomia, oculo-auriculo-vertebral dysplasia, and GS, Gorlin et al. concluded that they should be considered a continuous spectrum rather than separate disorders. The term oculo-auriculo-vertebral spectrum was given to be more inclusive and to describe a spectrum of clinical manifestations that vary from mild to severe although GS is still the term most often used. Since then, many cases of GS and their variations such as oculo-auriculo-vertebral spectrum with radial defects are reported in the literature.,,
A thorough history of the patients includes identification data and prenatal, perinatal, and family history. Detailed clinical evaluation included general examination with particular concern to the classification of the external ear defect and the facial type of cleft. Imaging included skull, facial, and upper limbs conventional X-rays; temporal bone computed tomography scan; and hematological and G-banded chromosome studies. Audiological evaluation included pure tone audiometry, speech audiometry, tympanometry, stapedius reflex measurement, and brainstem evoked response. This case report highlights a detailed case and a brief review of the literature as this was unique.
| Conclusion|| |
Every single case that presents with a variation and/or uniqueness should be described in the literature as it adds to the knowledge of the clinician. Further, case study/analysis should be conducted to confirm the presentations and add the findings in the literature. Herein, the author has shared the case of GS with an accessory maxillary dental arch and tuberosity, prominent zygomatic bone, and abnormal temporomandibular joints bony findings.
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
Conflicts of interest
There are no conflicts of interest.
| References|| |
Gorlin RJ, Cohen MM, Hennekam RC. Syndromes of the Head and Neck. 4th
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Mellor DH, Richardson JE, Douglas DM. Goldenhar's syndrome. Oculoauriculo-vertebral dysplasia. Arch Dis Child 1973;48:537-41.
Goldenhar M. Associated malformations of eye and ear, particularly dermoid syndrome epibulbar – Appendices, congenital auricular fistulas and its relations with manibulofacial dysostosis. J Genet Hum 1952;1:243-82.
Kokavec R. Goldenhar syndrome with various clinical manifestations. Cleft Palate Craniofac J 2006;43:628-34.
Gorlin RJ, Jue KL, Jacobsen U, Goldschmidt E. Oculoauriculovertebral dysplasia. J Pediatr 1963;63:991-9.
Vendramini S, Richieri-Costa A, Guion-Almeida ML. Oculoauriculovertebral spectrum with radial defects: A new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature. Eur J Hum Genet 2007;15:411-21.
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]