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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 11, No. 3, 2005, pp. 156-158
Bioline Code: hg05031
Full paper language: English
Document type: Research Article
Document available free of charge

Indian Journal of Human Genetics, Vol. 11, No. 3, 2005, pp. 156-158

 en Case Reports- Facio-auricular vertebral syndrome-a case report
Reddy MV. V., Reddy PP, Usha Rani P, Hema Bindu L


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.

Hemifacial microsomia, Vertebral anomalies, Atresia, Dermoid cyst, Sensorineural, Hearing loss, Goldenhar syndrome

© Copyright 2005 Indian Journal of Human Genetics.
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