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.

Pathogenic mitochondrial DNA mutations are most often implicated in inherited and acquired hearing impairment. The current review mainly focuses on the 12S rRNA mitochondrial gene mutations associated with non-syndromic deafness without or after aminoglycosides exposure. Aminoglycoside-induced and nonsyndromic deafness has been shown to have a genetic susceptibility and the pathogenic mitochondrial 12S rRNA A1555G mutation was identified as the primary factor underlying the hearing loss in many familial as well as in genetically unrelated cases, particularly in Asian populations where aminoglycoside antibiotics are commonly used even for minor infections. Many families were shown to transmit the aminoglycoside ototoxicity through matrilineal inheritance and the A1555G mutation in the 12S rRNA gene was frequently identified. The aminoglycoside antibiotics are believed to target the mitochondrial ribosome in the cochlea resulting in abnormal RNA processing or decreased efficiency of translation thereby leading to irreversible auditory dysfunction. Such cases may have a genetic predisposition to aminoglycoside ototoxicity following autosomal dominant, autosomal recessive, X-linked, or mitochondrial pattern of inheritance.

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BACKGROUND: Rubella is a contagious viral infection Postnatal factors) and the remaining are due to genetic associated with rash. 10-15% of women are susceptible to factors or unknown causes. The prevalence of moderate this infection in their childbearing years and the disease is to severe hearing impairment in India is about 6.3% usually transmitted to the developing fetus causing abortion or stillbir th or congenital Rubella syndrome (CRS). Majority of the children born with CRS are affected with India. Congenital of this infection and its consequences is another important reason behind the low percentage of the affected population.