The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the Branchio-Oto-Renal syndrome. A family study

Objective: A new large family with the BOR syndrome is reported with special reference to the presence of a widened vestibular aqueduct and a progressive sensorineural component in the mixed hearing loss. A review of the BOR literature of 184 patients is given. Setting: University Hospitals. Results...

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Published in:	International journal of pediatric otorhinolaryngology Vol. 59; no. 3; pp. 163 - 172
Main Authors:	Stinckens, Chr, Standaert, L., Casselman, J.W., Huygen, P.L.M, Kumar, S., Van de Wallen, J., Cremers, C.W.R.J.
Format:	Journal Article
Language:	English
Published:	Amsterdam Elsevier Ireland Ltd 02-07-2001 Elsevier
Subjects:	Adolescent Adult Audiometry Auditory Threshold Biological and medical sciences Bone Conduction BOR syndrome Branchio-Oto-Renal Syndrome - pathology Child Child, Preschool Complex syndromes Disease Progression Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology Enlarged vestibular aqueduct Genetic deafness Hearing Loss, Sensorineural - diagnosis Hearing Loss, Sensorineural - genetics Hearing Loss, Sensorineural - pathology Humans Hypoplasia of the cochlea Medical genetics Medical sciences Non tumoral diseases Otorhinolaryngology. Stomatology Pedigree Progressive sensorineural hearing impairment Syndrome Vestibular Aqueduct - pathology Genetic deafness BOR syndrome Progressive sensorineural hearing impairment Enlarged vestibular aqueduct Hypoplasia of the cochlea Human Hypoplasia Radiodiagnosis Audiometry Family study Etiopathogenesis Auditory disorder Exploration Nuclear magnetic resonance imaging Radiography Symptomatology Concomitant disease Cochlea Genetics Medical imagery ENT disease Perception hearing loss Computerized axial tomography Diagnosis Vestibular aqueduct Complex syndrome
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Summary:	Objective: A new large family with the BOR syndrome is reported with special reference to the presence of a widened vestibular aqueduct and a progressive sensorineural component in the mixed hearing loss. A review of the BOR literature of 184 patients is given. Setting: University Hospitals. Results: A BOR family with 17 affected members was studied. Fourteen of those 17 were still alive and 12 of those cooperated in this clinical study. Detailed radiological studies showed in three out of 12 affected family members a widened vestibular aqueduct and progressive sensorineural hearing loss. This raises the question whether there is a true correlation or whether those are coincidental. Conclusions: In our family with the Branchio-Oto-Renal syndrome, a widened vestibular aqueduct and progressive hearing loss is found in a few affected family members. Imaging of the temporal bones and long-term audiometric follow-up could help to reveal whether the widened vestibular aqueduct is the cause for the progressive hearing loss.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0165-5876 1872-8464
DOI:	10.1016/S0165-5876(01)00473-6