THE OTO-PROJECTIOSCOPE

Branchio-oto-renal syndrome.

Branchio-oto-renal syndrome, a phenotype consisting of hearing loss, auricular malformations, branchial arch remnants, and renal anomalies is now recognized as one of the more common forms of autosomal dominant syndromic hearing impairment. Three loci known to be associated with the BOR phenotype have been identified and two genes that act in a regulatory network have been cloned, EYA1 and SIX1...

Branchio-oto-renal syndrome.

Branchio-oto-renal syndrome (Melnick-Fraser syndrome) is a rare autosomal dominant disorder characterized by syndromic association of branchial cysts or fistulae along with external, middle & inner ear malformations and renal anomalies. Authors are reporting a 19 year male patient, who presented with profound deafness & low set "lop-ear" with right sided preauricular pit. USG abdomen revealed a...

Recent advances in oto-laryngology.

Auditory Functions In Oto-Palato-Digital Syndrome

The oto-palato-digital (OPD) syndrome is a rare X linked disorder characterized by generalized skeletal dysplasia. A case with major features of mild conductive hearing loss, with hyperteleorism, cleft soft palate, hand and foot abnormalities is presented. The evaluation of the auditory functions of case was performed by objective and subjective hearing tests with radiological findings of tempo...

Ocular changes in heredo-oto-ophthalmo-encephalopathy.

BACKGROUND Heredo-oto-ophthalmo-encephalopathy (HOOE) is a dominantly inherited disease characterised by gradual loss of vision from the age of 20, progressive hearing loss from the late 20s, cerebellar ataxia in the 30s, and death in dementia in the fourth or fifth decade. Currently, no detailed description has been given of the ocular changes seen in HOOE. Therefore, the ocular changes of HOO...