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branchio-oto-renal syndrome

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branchio-oto-renal syndrome
[brang′kē·ō·ō′tō·rē′nəl]
Etymology: Gk, branchia, gills + ous, ear + L, ren, kidney
branchial arch anomalies (preauricular pits, branchial fistulas or pits) associated with congenital deafness resulting from dysgenesis of the organ of Corti, and with renal dysplasia. It is inherited as an autosomal-dominant trait with high penetrance and variable expression.

branchio-oto-renal syndrome
An AD condition characterized by mixed hearing loss accompanied by a Mondini-type cochlear malformation, bilateral renal dysplasia with abnormalities of collecting ducts, and bilateral branchial clefts and/or cysts; BORS may be linked to breakpoint mutations on chromosome 8q


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Ultrasonography of the abdomen and renal examination showed normal kidney function, thus ruling out the possibility of branchio-oto-renal syndrome.
Ashley was born with branchio-oto-renal syndrome, a rare inherited condition that affected her hearing and kidneys.
In the latter case, hearing loss can be caused by conditions such as osteogenesis imperfecta, branchio-oto-renal syndrome, orofaciodigital type II syndrome, and Treacher Collins syndrome.
 
 
 
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