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Atypical Goldenhar Syndrome: A Case Report
1Dept. of Orthodontics & Dentofacial Orthopedics. RAMA Dental College, Hospital & Research Centre
2,Division of Orthodontics.Centre for Dental Education & Research . All India Institute of Medical Sciences
DOI: 10.17796/jcpd.31.2.e0134061u2670829 Vol.31,Issue 2,March 2007 pp.118-122
Published: 01 March 2007
*Corresponding Author(s): Ashok Kumar Jena E-mail: ashokkjena@yahoo.co.in
A patient with atypical Goldenhar syndrome is reported. The characteristic features similar to the other reported cases are facial asymmetry, multiple skin tags, limbal dermoids and posteriorly angulated ear. The atypical intraoral feature is unilateral presence of multiple complex odontomes. The hypotrophy of left hemisphere with localized calcification in the occipital and parietal regions of brain is also an additional finding in this patient.
Goldenhar syndrome, oculoauriculovertebral spectrum, dermoids, odontomes
Ashok Kumar Jena,Ritu Duggal. Atypical Goldenhar Syndrome: A Case Report. Journal of Clinical Pediatric Dentistry. 2007. 31(2);118-122.
1. Arlt F von: Klinische Darstellung der Krankheeiten des Auges, Wien 1881.
2. Goldenhar M. Associations malformatives de l,oeil et de l’oreille, en particulier le syndrome dermoide epibulbaire-appendices auriculaires-fistule auris congenita et ses relations avec la dysostose mandibulo-faciale. J Genet Hum; 1: 243-282. 1952
3. Gorlin RJ, Pindburg JJ. Syndromes of the head and neck. New York: McGraw-Hill Book Vompany 1964.
4. Gorlin RJ, Pindburg JJ, Cohn MM Jr. Oculo-auriculovertebral dyspla-sia. In “Syndromes of the head and neck, “Ed.2. New York McGraw-Hill, 1976. pp 546-552.
5. Gorlin RJ, Cohen MM, Levin LS. Branchial arch and Oro-Acral Disorders. In “Syndromes of the head and neck, “Ed. 2. New York Oxford University Press.. pp 641-649. 1990
6. Grabb WC. The first and second branchial arch syndrome. Plast Reconstr Surg; 36: 485-508. 1965
7. Pashayan H, Pinsky L, Fraser FC. Hemifacial microsomia- Oculo-auriculo-vertebral dysplasia. A patient with overlapping features. J Med Genet; 7: 185-188. 1970
8. Rollnick BR. Oculoauriculovertebral anomaly: Variability and casual heterogeneity. Am J Med Genet; 15: 233-253. 1983
9. Rollnick BR, Kaye CI. Hemifacial microsomia and variants pedigree data. Am J Med Genet; 15: 233-253. 1983
10. Smith DW. Facio-auriculo-vertebral spectrum. In “Recognizable Patterns of Human Malformation. “Ed. 3. Philadelphia: W.B. Saunders Co., pp 498-500. 1982
11. Tasse C, Bohringer S, Fischer S, Ludecke HJ, Albrecht B, Horn D et al. Oculo-auriculo-vertebral spectrum (OAVS): Clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet; 48: 397-411. 2005
12. Morrison PJ, Mulholland HC, Craig BG, Nevin NC. Cardiovascular abnormalities in the oculo-auriculo-vertebral spectrum (Goldenhar syn drome). Am J Med Genet; 44: 425-428. 1992
13. Proto F, Scullica L. Contributo allo studio della ereditarieta dei dermoi di epibulbari. Acta Genet Med (Rome); 15: 351. 1966
14. Setzer ES, Ruiz-Castaneda N, Severn C, Ryden S, Frias JL. Etiologic heterogeneity in the oculoauriculovertebral syndrome. J Pediatr 1981; 98: 88-90.
15. Boles DJ, Bodurtha J, Nance WE. Goldenhar complex in discordant monozygotic twins: A case report and review of the literature. Am J Med Genet; 28: 103-109. 1987
16. Kobrynsky L, Chtayat D, Zahed L, McGregor D, Rochon L, Brownstein S et al. Trisomy 22 and facioauriculovertebral (Goldenhar) sequence. Am J Med Genet; 46: 68-71. 1993
17. Sinha PN, Mishra S. Corneal dermoid. Am J Ophthal; 33: 1137. 1950
18. Ballantyne AH. A child showing multiple abnormalities. Proc Roy Soc Med; 26: 313. 1933
19. Wilson GN. Cranial defects in the Goldenhar association. Am J Med Genet; 14: 569-578. 1983
20. Ryan CA, Finer NN, Ives E. Discordance of signs in monozygotic twins concordant for the Goldenhar anomaly. Am J Med Genet; 29: 755-761. 1988
21. Rao VA, Kaliaperumal S, Subramanyan T, Rao KR, Bhargavan R. Goldenhar syndrome’s sequences in associated juvenile glaucoma in Turner’s syndrome. Ind J Ophthal; 53: 267-268. 2005
22. Sabo J. Lipoma conjuctivae in three generations. Acta Ophthal; 26: 447. 1948
23. Thomas P. Goldenhar syndrome and hemifacial microsomia: Observations on three patients. Eur J Pediatr; 133: 287-292. 1980
24. Waardenburg PJ, Franceschetti A, Klein D. Genetic and ophthalmolo-gy. Van Gorcum, Assen 1961; 1: 282.
25. Stallard HB, Martin PP. A case of dermo-fibro-lipoma of the conjuctiva associated with other congenital abnormalities. Brit J Ophthal; 15: 580. 1931
26. Sen DK, Mohan H, Gupta DK. The syndrome of Goldenhar. Acta Ophthal; 47: 1044. 1969
27. Gorlin RJ, Jue KL, Jacobsen V, Goldschmidt E. Oculoauriculovertebral dysplasia. J Pediatr; 63: 991-999. 1963
28. Stoll C, Viville B, Treisser A, Gasser B. A family with dominant ocu loauriculovertebral spectrum. Am J Med Genet; 78: 345-349. 1998
29. Tost M. Beitrag zur Dysplasia oculo-auriculo-vertebralis. Klin. Mbl. Augenheilk.; 154: 183. 1969
30. Anderson PJ, David DJ. Spinal anomalies in Goldenhar syndrome. Cleft Palate Craniofac J; 42: 477-480. 2005
31. Leiber B, Olbrich G. Die klinischen syndrome. Urban & Schwarzen- berg, Munchen, 275. 1966
32. Van Meter TD, Weaver DD. Oculo-auriculo-veretebral spectrum and the CHARG association: clinical evidence for a common pathogenetic mechanism. Clin Dysmorph; 5: 187-196. 1996
33. Sutphen R, Galan-Gomez E, Cortada X, Newkirk PN, Kousseff BG. Tracheoesophageal anomalies in oculoauriculovertebral (Goldenhar) spectrum. Clin Genet; 48: 66-71. 1995
34. Handa R, Upadhyay KK. Goldenhar syndrome with H type tracheoe sophageal fistula. Indian Pediatr; 40: 583-584. 2003
35. Stringer MD, Tovar JA, McKierman PJ, Tanner S. Portal vein caver-noma associated with Goldenhar syndrome. J Pediatr Gastroent Nutr; 41: 368-370. 2005
36. Drager LF, Silva HB, Bortolotto LA. Increased arterial distensibility and renovascular hypertension in Goldenhar syndrome. Clinics; 60: 173-176. 2005
37. Martinelli P, Maruotti GM, Agangi A, Mazzarelli LL, Bifulco G, Paladini D. Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum. Ultrasound Obstet Gynecol; 24: 199-201. 2004
38. Michel-Adde C, Laquerriere A, Eurin D, Drouin-Garraud V, Marret S. Goldenhar syndrome and neuroblastoma: a chance association ? Acta Paediatr; 92: 1223-1225. 2003
39. Barker N, Acaroglus G, Soykan E. Goldenhar syndrome
(Oculoauriculovertebral dysplasia) with congenital facial nerve palsy. Yonsei Med J; 45: 157-160. 2004
40. Villanueva O, Atkinson DS, Lambert SR. Trigeminal nerve hypoplasia and aplasia in children with Goldenhar syndrome and corneal hypopla-sia. JAAPOS; 9: 202-204. 2005
41. Bersu ET, Ramirez-Castro JL. Anatomical analysis of the developmen-tal effects of aneuploidy in man-The 18 trisomy syndrome. I. Anomalies of the head and neck. Am J Med Genet; 1: 173-193. 1977
42. Dyggve HV, Mikkelsen M. Partial deletion of the short arms of a chro mosome of the 4-5 group (Denver). Arch Dis Child 1965; 40: 82-85.
43. Ladekari S. Combination of Goldenhar’s syndrome with the cri-du-chat syndrome. Acta Ophthal (Kbh); 46: 605-610. 1968
44. Sujansky E, Smith ACM. Recombinant chromosome in two male sibs with first and second branchial arch syndrome. Soc Hum Genet 1981; 33: 92A (abstract).
45. Townes PL, White MR. Inherited partial trisomy 8q (22qter). Am J Dis Child; 132: 498-501. 1978
46. Melnick M, Hodes ME, Nance WE,Yune H, Sweeney A. Branchio-oto-renal dysplasia and branchio-oto dysplasia: Two distinct autosomal dominant disorders. Clin Genet; 13: 425-442. 1978
47. Ellwood LC, Winter ST, Dar H. Familial microtia with meatal atresia in two siblings. Med Genet; 5: 289-291. 1968
48. Krause VH. The syndrome of Goldenhar affecting twos8iblings. Acta Ophthal (Kbh); 48: 494-499. 1970
49. Kirke DK. Goldenhar’s syndrome: Two cases of oculo-auriculo-verte-bral dysplasia occurring in full blood Australian aboriginal sisters. Aust Pediatr; 6: 212-214. 1970
50. terHaar B. Oculo-auriculo-veretebral dysplasia (Goldenhar’s syn-drome) concordant in identical twins. Acta Genet Med Gemeollol; 21: 116-124. 1972
51. Aase JM, Tegtmeier RE. Microtia in New Mexico: Evidence for mul-tifactorial causation. In Bergsma D, Lowry B (eds); “Numerical Taxonomy of Birth Defects and Polygenic Disorders.” New York:Alan R. Liss for the National Foundation-March of Dimes, BD:OAS XIII (3A):. pp. 113-116. 1977
52. Regenbogen L, Godel V, Goya V, Goodman RM. Further evidence for an autosomal dominant form of oculoauriculovertebral dysplasia. Clin Genet; 21: 161-167. 1982
53. Smmitt RL. Familial Goldenhar syndrome. Birth defects Orig Art Ser; 2: 106-109. 1969
54. Godel V, Regenbogen L, Goya V, Goodman RM. Autosomal dominant Goldenhar syndrome. Birth Defects Orig Art Ser; 18: 621-628. 1982
55. Soltan HC, Holmes LB. Familial occurrence of malformations possibly attributable to vascular abnormalities. J Pediatr; 108: 112-114. 1986
56. Burck U. Genetic aspects of hemifacial microsomia. Hum Genet; 64: 291-296. 1983
57. Conner JM, Fernandez C. Genetic aspects of hemifacial microsomia.(Letter) Hum Genet; 68: 349. 1984
58. Verona LL, Damian NG, Pavarina LP, Ferreira CH, Melo DG. Monozygotic twins discordant for Goldenhar syndrome. J Pediatr; 82: 75-78. 2006
59. Jongbloet PH. Goldenhar syndrome and overlapping dysplasias, in vitro fertilization and ovopathy. J Med Genet; 24: 616-620. 1987
60. Kelberman D, Tyson J, Chandler DC, McInerney AM, Slee J, Albert D et al. Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome. Hum Genet; 109: 638-645. 2001
61. Beverly RR, Kaye CI. Hemifacial microsomia and variants. Pedigree data. Am J Med Genet; 15: 233-253. 1983
62. Feingold M, Baum J. Goldenhar’s Syndrome. Am J Dis Child; 132:
136. 1978
63. Poswillo D. Otomandibular deformity. Pathogenesis as a guide to reconstruction. J Maxillofac Surg; 2: 64. 1974
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