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| Year : 2013 | Volume
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| Issue : 1 | Page : 149 |
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| Goldenhar syndrome |
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Neeraj Sharma1, Sidhi Passi2
1 Department of Oral Medicine and Radiology, Dr. Harvansh Singh Judge Institute of Dental Sciences, Punjab University, Chandigarh, India
2 Department of Pedodontia, Dr. Harvansh Singh Judge Institute of Dental Sciences, Punjab University, Chandigarh, India
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| Date of Submission | 21-May-2011 |
| Date of Decision | 19-Oct-2011 |
| Date of Acceptance | 10-Dec-2011 |
| Date of Web Publication | 12-Jul-2013 |
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 Abstract | | |
Goldenhar syndrome is a syndrome of complex structures developing from first and second branchial arches during blastogenesis. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. Here we present a unique case of Goldenhar syndrome with absence of left condyle, hypoplasia of the zygomatic bone, no pneumatization of the mastoid process, underdeveloped mandible, bifid tongue and the skin tags in the preauricular area. Keywords: Blastogenesis, Goldenhar syndrome, syndrome
How to cite this article:
Sharma N, Passi S. Goldenhar syndrome. Indian J Dent Res 2013;24:149 |
| Introduction | |  |
Goldenhar syndrome is a developmental disorder caused by development defects of the first and the second brachial archs. Patients with Goldenhar syndrome can have multiple congenital anomalies involving cardiac, renal and central nervous systems. Oral manifestations in this syndrome are clearly heterogeneous, and range from malocclusion to a more complex phenotype with complete absence of the mandibular ramus and temporomandibular joint. Different forms of cleft lip and palate and decreased palatal width are frequently found in these patients. This paper describes the clinical features of Goldenhar syndrome, with emphasis on the oral manifestations.
| Case Report | | |
A 17-year-old female born to non-consanguineous healthy parents came to the department of oral diagnosis with abnormalities of the face, oral cavity and ears since birth. The antenatal, intranatal and postnatal periods were uneventful. She was the youngest of three siblings. All other family members including an older male sibling and the other female siblings were normal.
On examination, the girl was markedly undernourished and showed abnormal features [Figure 1]. She had normal right ear size but on the left preauricular area showed multiple skin tags [Figure 2]. The intraoral examination revealed an anterior open bite and the bifid tongue [Figure 3] and [Figure 4]. Her mouth deviated to right on opening. The OPG was taken it showed the absence of left condyle [Figure 5]. CT scan showed absence of left condyle, hypoplasia of the zygomatic bone and lack of the air cells in the mastoid process [Figure 6]. There were no spinal, rib or limb anomalies. Systemic examination did not reveal any cardiovascular or renal abnormality. Her investigations revealed a normal hemogram, normal blood urea nitrogen and serum creatinine. Roentgenograms of the spine, chest and abdomen were normal. | Figure 6: CT scan showing hypoplasia of the zygomatic bone, absence of pneumatization of the mastoid process and absence of left condyle
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| Discussion | | |
Goldenhar syndrome is a rare presumably inherited condition, which has a multifactorial etiopathology that also includes nutritional and environmental factors. [1] It is a rare condition with an incidence rate ranging from approximately 1:3000 to 1:5000 live births, [2] it is more common in males, with a male-female ratio of 3:2. [2] It was first described by Von Arlt in 1845 [3] but Goldenhar [4] defined the syndrome more clearly almost a century later. Goldenhar first described this condition in 1952 as a disease that presents a combination of several anomalies such as dermal epibulbar tumors, periauricular appendices and malformation of the ears. Goldenhar syndrome is well known for its classical triad of ocular, auricular and vertebral disturbances. It may show hemifacial microsomia i.e., hypoplasia of the zygomatic, mandibular and maxillary bones, [3] this syndrome may also present heart diseases (5-58% of the patients) [5] muscle hypoplasia, anatomical and morphological abnormalities of the tongue, vertebral anomalies, cleft palate, disturbance of the central nervous system and other visceral anomalies. [6],[7]
The various synonyms for Goldenhar are:
- Goldenhar-Gorlin syndrome More Details
- First and second branchial arch syndrome
- Oculo-auriculo-vertebral dysplasia
- Facio-auriculo-vertebral spectrum
The case we present here is certainly a more mild variation of the Goldenhar condition, as it showed multiple skin tags in the preauricular area, absence of one condyle, hypoplastic malar bone and the absence of pneumatization of the mastoid process. The intraoral findings also revealed a bifid tongue and an anterior open bite.
Once a child is diagnosed with Goldenhar syndrome, additional tests should be performed. A hearing evaluation is necessary to determine if there is hearing loss. If hearing loss is evident, the child should be referred to a hearing specialist. Speech therapy may also be helpful. Radiograph of the spine are recommended to determine if there are vertebral problems and the severity. Individuals with Goldenhar syndrome should also be regularly evaluated for scoliosis. Renal ultrasounds and ultrasounds of the heart may also be recommended, due to the increased risk for birth defects in these areas. A health care professional would make this recommendation. Finally, individuals with Goldenhar syndrome should be evaluated by an ophthalmologist.
Surgery may be required to correct the birth defects seen in Goldenhar syndrome. Surgery to correct the facial birth defects can improve appearance and function.
Differential diagnoses for Goldenhar syndrome (especially the facial abnormalities)
- Treacher Collins syndrome More Details
- Romberg disease (hemifacial atrophy) seen later in life could have a similar appearance to hemifacial microsomia
- Craniosynostosis
- Hemifacial microsomia
| References | | |
| 1. | McKenzie J. The first arch syndrome. Arch Dis Childh 1958;33:477-86. 
[PUBMED] |
| 2. | Grabb WC. The first and second brachial arch syndrome. Plast Reconstruct Surg 1965;36:485-508.
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| 3. | Gorlin RJ, Pindberg JJ, Cohen MM. Oculo-auriculo-vertebral dysplasia. In, "Syndromes of the Head and Neck." New York, London and Johannesberg: McGraw-Hill Book Company, A Blackiston Division; 1964, p. 546.
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| 4. | Goldenhar M. Association malformatives de I'oeil et de I'oreill en particulier le syndrome dermoide epibulbaire-appendices-auriculares-fistula auris congenita et ses relations avec la dysostose mandibulofaciale. J Genet Hum 1952;1:243-82.
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| 5. | Cohen J, Schanan NC. Branchial cleft anamoly, congenital heart disease, and biliary atresia. Goldenhar complex or Lambert syndrome? Genetic Couns 2000:11:153-6.
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| 6. | Bayraktar S, Bayraktar SJ, Ataoglu E, Ayaz A, Elveli M. Goldenhar syndrome associated with multiple congenital abnormalities. J Trop Pediatr 2005;51:377-9.
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| 7. | Langman J. First arch syndrome. In, "Head and Neck." In, "Medical Embryology," 4 th Ed, Baltimore/London: Williams and Wilkins; 1981. p. 278-9.
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Correspondence Address:
Sidhi Passi
Department of Pedodontia, Dr. Harvansh Singh Judge Institute of Dental Sciences, Punjab University, Chandigarh
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0970-9290.114952
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6] |
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