International Journal of Anatomy and Research



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Type of Article: Case Report

Year: 2016 | Volume 4 | Issue 1 | Page No. 2076-2079

Date of Publication: 31-03-2016

DOI: http://dx.doi.org/10.16965/ijar.2016.146


GOLDENHAR SYNDROME

R Lakshmi Prabha Subhash *, Anupama D, Meenakshi Bhat, Jayarama S Kadandale, Harshal K L.

Department of Anatomy, Sri Siddhartha Medical College, Agalakote, Tumkur, Karnataka, India.

Address: Dr R Lakshmi Prabha Subhash. MBBS.MS, Professor & HOD, Department of Anatomy, Sri Siddhartha Medical College, Agalakote, Tumkur-572107, Karnataka, India.
E-Mail: drrlakshmisubhash3663@gmail.com

Abstract

Goldenhar Syndrome   also called as oculo-auriculo-vertebral dysplasia,is a rare syndrome developing from first and second pharyngeal arches during Blastogenesis.This condition was documented in 1952 by Maurice Goldenharr.The syndrome is charecterised by multiple anomalies of  the ocular,auricular,cardiac,skeletal and nervous system.Pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal  aberration  seen in this syndrome.Multi disciplinary approach should be undertaken by several departments in evaluating such patients
KEY WORDS: Epibulbar dermoid, Micrognathia,Preauricular tags.

References

  1. Tsai FJ,Tsai CH. Autosomal dominant inherited Oculo-auriculo-Vertebral spectrumreport of one family. Acta Paediatr Sin 1993;34:27-31.
  2. Jaison SG, Batra N. GHS with multiple additional anomalies. Indian J Opthalmol. 1996;44:42-4.
  3. Rollinick BR,Kaye CI,Nagatoshi K et al.Oculoauriculo vertebral dysplasia and variant and phenotopic characteristics in 294 patients. Am J Med Genet. 1987;26:361-75.
  4. Ozdemir O, Ardak, Turhan H, Tosun O. Goldenhar’s Syndrome. Asian Cardiovascular Thorasic Ann 2002 Sept;10(3):267-96.
  5. Ritchey ML, Narbeekj H. Urologic manisfestation of G-H syndrome, urology 1994;43:88-91.
  6. Rosa RF, Graziadioc, Lanhardt R, Alves RP Paskulin GA, Zen PR. Central nervous system abnormalities in pts with OAV Spectrum ( GHS ) . Arg Neuropsciquiatr, 2010 Feb;68(1): 98-102.
  7. A Kumar, Friedman JM, Taylor GP, Patterson MW. Pattern of Cardiac malfermatun in OAV Spectrum. Am J Med Genet. 1993 Jun 1;46(4):423-6. [ Page (10) Ref. GHB Complications Ref (6) ]
  8. Morrison PJ, Mulholland HC, Craig BG et al. Cardiovascular abnormalities in OAV Spectrum (GHS). Amj Med Genet. 1992 Nov 1; 44(4):425-8.
  9. Martelli H. R, de Miranda RT, Fernandes CM, Bonan PR, Paranaiba LM, Garner E et al. emphasis. J Appl oral Sei. 2010 Dec;18(6):646-9.
  10. Mowison PJ, Mulholland HC,Craig BG. Cardiovascular abnormalities in the Oculo auriculo vertebral spectrum. Am J Med Genet. 1992;44:425-8.
  11. Russell , Weaver DD , Bull MJ. The axial mesodermal dysplasia spectrum. Paediatrics. 1981 Feb;67(2):176-82.
  12. E nquiz. O, Balci S, Unsal M, Ozer S, Oquz KK Aktas D. 31 Cases with Oculo auriculo vertebral audiologic and cytogenic findings. Genet couns, 2007;18(3):277-88.
  13. Golder N Wilson. Cranial defects in GHS. 1983 American Journal of Medical Genetics. 14;435-43.

 

R Lakshmi Prabha Subhash, Anupama D, Meenakshi Bhat, Jayarama S Kadandale, Harshal K L. GOLDENHAR SYNDROME: A CASE REPORT. Int J Anat Res 2016;4(1):2076-2079. DOI: 10.16965/ijar.2016.146

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