Indian Journal of Human Genetics
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CASE REPORT
Year : 2005  |  Volume : 11  |  Issue : 3  |  Page : 156-158

Facio-auricular vertebral syndrome-a case report


1 Department of E.N.T, Osmania Medical College, Hyderabad, India
2 Department of Environmental Toxicology, Institute of Genetics and Hospital for Genetic Diseases, Ameerpet, Hyderabad, India

Correspondence Address:
P P Reddy
Department of Genetic Toxicology, Institute of Genetics and Hospital for Genetic Diseases, Ameerpet, Hyderabad, Andhra Pradesh-500 016
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-6866.19537

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Facio Auricular Vertebral (FAV) or Goldenhar syndrome is a very rare kind of syndromic deafness and is inherited as autosomal dominant. A study was taken up to understand the prevalence of this syndrome in children below the age of 14 years with hearing loss. Out of 1073 children with hearing impairment, Goldenhar syndrome was observed only in 1 (0.09%) case. The child suffered severe hearing loss. Facial paralysis and hemifacial microsomia were prominent features observed in the child. Facio-Auricular-Vertebral syndrome is therefore synonymously used with Goldenhar syndrome.


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