Dental and Medical Problems

Dent Med Probl
Impact Factor (IF 2023) – 2.7
Journal Citation Indicator (JCI 2023) - 1.06
Scopus CiteScore (2023) – 4.0 (CiteScore Tracker – 4.9)
Index Copernicus (ICV 2023) – 181.00
MNiSW – 70 pts
ISSN 1644-387X (print)
ISSN 2300-9020 (online)
Periodicity – bimonthly


 

Download original text (EN)

Dental and Medical Problems

2019, vol. 56, nr 4, October-December, p. 427–431

doi: 10.17219/dmp/110234

Publication type: clinical case

Language: English

License: Creative Commons Attribution 3.0 Unported (CC BY 3.0)

Download citation:

  • BIBTEX (JabRef, Mendeley)
  • RIS (Papers, Reference Manager, RefWorks, Zotero)

Oculo-auriculo-vertebral spectrum with radial defects, a bifid condyle and taurodontism: A case report

Spektrum objawów oczno-uszno-kręgowych z wadami promieniowymi, dwudzielnym kłykciem i taurodontyzmem – opis przypadku

Vela Desai1,D,E,F

1 Jaipur Dental College, India

Abstract

Goldenhar syndrome (GS) is a rare congenital anomaly involving the first and second branchial arches. It is an autosomal dominant genetic disorder in which there is abnormal prenatal development of the head and face leading to the subsequent asymmetry of craniofacial structures. It is generally sporadic, with its incidence ranging from 1:3,500 to 1:5,600 live births and a gender ratio of 3:2 (male:female). Goldenhar syndrome is considered to be a variant of hemifacial microsomia, characterized additionally by vertebral anomalies and epibulbar dermoids. Facio-auricular dysplasias represent a single disorder with great variability of expression, and an isolated ear malformation may represent the mildest expression of the disorder. This report presents a case of the oculo-auriculo-vertebral spectrum (OAVS) with radial defects, a unilateral bifid condyle and taurodontism. The presence of a bifid condyle and taurodontism has not been previously reported in the literature. Whether this is a coincidental or new finding has to be hypothesized and confirmed. The documentation of all such new findings is of utmost importance for updating the existing literature.

Key words

hypoplasia, bifid condyle, hemifacial microsomia, Goldenhar syndrome, taurodontism

Słowa kluczowe

hipoplazja, dwudzielny kłykieć, mikrosomia połowy twarzy, zespół Goldenhara, taurodontyzm

References (21)

  1. von Arlt F. Clinical Presentation of Diseases of the Eye [in German]. 1st ed. Vienna, Austria: Wilhelm Braumüller; 1881.
  2. Goldenhar M. Associated malformations of the eye and ear, particu­larly the epibulbar dermoid syndrome, accessory auricle and fistula auris congenital, and their relation to mandibulofacial dysostosis [in French]. J Génét Hum. 1952;1:243–282.
  3. Gorlin RJ, Jue KL, Jacobsen U, Goldschmidt E. Oculoauriculovertebral dysplasia. J Pediatr. 1963;63:991–999.
  4. Converse JM, Coccaro PJ, Becker M, Wood-Smith D. On hemifacial microsomia. The first and second branchial arch syndrome. Plast Reconstr Surg. 1973;51(3):268–279.
  5. Grabb WC. The first and second branchial arch syndrome. Plast Reconstr Surg. 1965;36(5):485–508.
  6. Gorlin RJ, Cohen MM, Hennekam RCM. Syndromes of the Head and Neck. 4th ed. New York, NY: Oxford University Press; 2001.
  7. van Bever Y, van den Ende JJ, Richieri-Costa A. Oculo-auriculo-vertebral complex and uncommon associated anomalies: Report on 8 unrelated Brazilian patients. Am J Med Genet.1992;44(5):683–690.
  8. 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. Europ J Hum Genet. 2007;15(4):411–421.
  9. Kokavec R. Goldenhar syndrome with various clinical manifestations. Cleft Palate Craniofac J. 2006;43(5):628–634.
  10. Lam CH. A theory on the embryogenesis of oculo-auriculo-vertebral (Goldenhar syndrome). J Craniofac Surg. 2000;11(6):547–552.
  11. Hartsfield JK. Review of the etiologic heterogeneity of the oculo-auriculo-vertebral spectrum (hemifacial microsomia). Orthod Craniofac Res. 2007;10(3):121–128.
  12. Caccamese JF Jr, Costello BJ, Mooney MP. Novel deformity of the mandible in oculo-auriculo-vertebral spectrum: Case report and literature review. J Oral Maxillofac Surg. 2006;64(8):1278–1282.
  13. Sinha S, Singh AK, Mehra A, Singh R. Goldenhar syndrome – a litera­ture review. JSM Dent. 2015;3(1):1052.
  14. Lakshman AR, Subhas BG, Castelino RL, Kalkur C, Halimet N. Goldenhar syndrome: A case report with review of literature. MOJ Biol Med. 2017;1(1):18–20.
  15. Bhuyan R, Pati AR, Bhuyan SK, Nayak BB. Goldenhar syndrome: A rare case report. J Oral Maxillofac Pathol. 2016;20(2):328.
  16. Saxena R, David MP. Goldenhar syndrome – a rare case report. J Genet Syndr Gene Ther. 2012; 3(2):1–4.
  17. Mellor DH, Richardson JE, Douglas DM. Goldenhar’s syndrome. Oculoauriculo-vertebral dysplasia. Arch Dis Child. 1973;48(7):537–541.
  18. Vinay C, Reddy RS, Uloopi KS, Madhuri V, Sekhar RC. Craniofacial features in Goldenhar syndrome. J Indian Soc Pedod Prev Dent. 2009;27(2):121–124.
  19. Patil NA, Patil AB. Goldenhar syndrome: Case report. IJSS J Surg. 2015;1(1):18–19.
  20. Weerda H. Ear Auricle Surgery. Injuries, Defects and Anomalies [in German]. Stuttgart, Germany: Thieme; 2004:105–226.
  21. Subramaniam P, Girish Babu KL, Jayasurya S, Prahalad D. Dental management of a child with Goldenhar syndrome. Europ J Gen Dent. 2014;3(2):158–162.
© Wroclaw Medical University