BRANCHIO-OTO-RENAL SYNDROME – Short Question DNB ENT
The branchio-oto-renal syndrome (BOR) or Melnick-Fraser Syndrome is an uncommon but well defined constellation of branchial arch anomalies (brancial fistulas, branchial cysts), external ear malformations with hearing loss and renal hypoplasia or dysplasia​*​. It has an autosomal dominant transmission pattern with variable clinical expression. Around 80 mutations in EYA1, the human homologue of the dorsophila eyes absent gene, have been responsible for the development of BOR syndrome. Mutations in SIX1 and SIX5 have been reported less frequently however, role of SIX5 needs reconsideration in light of recent studies.​1–5​​†​.
Mention the genetics and clinical features for Branchio-oto-renal syndrome. June 2013
Abnormalities
in the ossicular system which is derived from the first two branchial arches is responsible for deafness, while the branchial fistulae are linked to the second, third and fourth arches. Renal anomalies are related to a fault between the ureteric bud and metanephric mesenchymal mass as the ureteric bud branches into renal parenchyma.
Clinical features
are highly variable. The most common presenting symptom is deafness (90%) which can be sensorineural or conductive but is mostly mixed (sensorineural, conductive, mixed, Mondini aplasia or small cochlea) (50%)​6,7​.
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