Goldenhar Syndrome

Document Type : Case Report

Authors

1 Sonoir Resident of Radiology.Department of Radiology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.

2 Professor of Pediatrics Nephrology. Diabetes Research Center, Department of Pediatric Nephrology Division, Abuzar Children`s Hospital, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

Abstract

Goldenhar syndrome (GS) or Oculo-Auriculo-Vertebral Syndrome is a rare disease characterized by craniofacial anomalies such as hypoplasia of the mandible and malar bone, microtia, and vertebral anomalies. GS is an etiologically heterogeneous disorder that may have a genetic basis in some cases. Here, a 3-month-old girl with GS is reported. She was brought for routine check-up. On physical examination, the unusual features were facial asymmetry, unilateral macrostomia, a preauricular tag low set ear, atresia of external ear canal and an epibulbar dermoid cyst at the left side. Brain-stem evoked response audiometry showed severe-profound conductive hearing loss on the left side. She has an older brother with the same problems. Congenital malformations in patient with GS are unilateral. Early detection and treatment of hearing loss is very important in the development of the patient.
 

Keywords

References

 
منابع
1-Touliatou V, Fryssira H, Mavrou A, Kanavakis E, Kitsiou-Tzeli S. Clinical manifestations in 17 Greek patients with Goldenhar syndrome. Genet Couns 2006;17:359–70.
2-Goldenhar M. Associations malformatives do I'oeil et de  I' oreille, en partiaulier le syndrome dermoide epibulbaue - appendices auricularies-fistula auris congenita et ses relations avec la dystostose mandibulo-faciale. J Genet Hum 1952;1:243-82.
3-Gorlin RJ, Pindborg JJ. Syndromes of the head and neck. New York: McGraw-Hill; 1964. p. 546–52.
4-Gorlin RJ, Jue KL, Jacobsen U, Goldschmidt E. Oculoauriculovertebral dysplasia. J Pediatr 1963;63:991–9..
5-Feingold M, Baum J. Goldenhar’s syndrome. Am J Dis Child 1978;132:136-8.
6-Ala-Mello S, Siggberg L, Knuutila S, Von Koskull H, Taskinen M, Peippo M. Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly. Am J Med Genet A 2008;146A:2490-4.
7-Research data from Center for Child Health update understanding of Goldenhar syndrome genetics. Genomics & Genetics Weekly 2007.
8-Tribioli C, Lufkin T. Molecular cloning, chromosomal mapping and developmental expression of BAPX1, a novel human homeobox-containing gene homologous to Drosophila bagpipe. Gene 1997;203:225–33.
9-Skarzynski H, Porowski M, Podskarbi-Fayette R. Treatment of otological features of the oculoauriculovertebral dysplasia (Goldenhar syndrome). Int J Pediatr Otorhinolaryngol 2009;73:915-21.
10-Bennun RD, Mulliken JB, Kaban LB, Murray JE. Microtia: A microform of hemifacial microsomia. Plast Reconstr Surg 1985;76:859-65.
11-Alasti F, Van Camp G. Genetics of microtia and associated syndromes. J Med Genet 2009;46:361-9.
12-Hartsfield JK. Review of the etiologic heterogeneity of the oculo-auriculo-vertebral spectrum (Hemifacial Microsomia). Orthod Craniofac Res 2007;10:121-8.
13-Engiz O, Balci S, Unsal M, Ozer S, Oguz KK, Aktas D. 31 cases with oculoauriculovertebral dysplasia (Goldenhar syndrome): Clinical, neuroradiologic, audiologic and cytogenetic findings. Genet Couns 2007;18:277-88.
14-Abdollahi AA, Gol Alipoor MJ, Taziki MH. Goldenhar syndrome: A case report. Asrar, Journal of Sabzevar School of Medical Sciences 2003;1:84-8.
15-Ashraf Zadeh F, Faraji M. Goldenhar syndrome and pericentric inversion of chromosome 9. Iranian Journal of Medical Sciences 2006; 2:118-120
16-Marres HA. Hearing loss in the Treacher-Collins syndrome. Adv Otorhinolaryngol 2002;61:209–15.
17-Dixon MJ. Treacher Collins syndrome. Hum Mol Genet 1996;5:1391–6.
18-Opitz JM, Mollica F, Sorge G, Milana G, Cimino G, Caltabiano M. Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis. Am J Med Genet 1993;47:660-78.
19-Blake KD, Prasad C. CHARGE syndrome. Orphanet J Rare Dis 2006;1:34.
20-Converse JM, Horowitz SL, Coccaro PJ, Wood-Smith D. The corrective treatment of the skeletal asymmetry in hemifacial microsomia. Plast Reconstr Surg 1973;52:221-32.
21-Kaban LB, Moses MH, Mulliken JB. Surgical correction of hemifacial microsomia in the growing child. Plast Reconstr Surg 1988;82:9-19.
22-Kearns GJ, Padwa BL, Mulliken JB, Kaban LB. Progression of facial asymmetry in hemifacial microsomia. Plast Reconstr Surg 2000;105:492-8.   
23-Stahl F, Baccetti T, Franchi L, McNamara JA JR. Longitudinal growth changes in untreated subjects with Class II Division 1 malocclusion. Am J Orthod Dentofacial Orthop 2008;134:125-37.
Jundishapur Scientific Medical Journal
Volume 11, Issue 1 - Serial Number 76
July and August 2002
Pages 1-111

Files

History

  • Receive Date: 27 June 2011
  • Revise Date: 21 July 2011
  • Accept Date: 22 November 2011

Share

How to cite

Statistics