Otological Aspects of the Earpit-Deafness Syndrome

Cremers, C.W.R.J.; Thijssen, H.O.M.; Fischer, A.J.E.M.; Marres, E. H. M. A.

doi:10.1159/000275541

Cited by 34 publications

(23 citation statements)

References 6 publications

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“…This study clearly demonstrated the limitation of middle ear surgeries for hearing improvement in patients with BOR/BO syndrome consistent with previous reports [19]. The failure may be explained by several reasons.…”

Section: Discussionsupporting

confidence: 91%

“…Cremers et al [19] have reported that the hearing loss in BOR/BO syndrome was stable without progression or fluctuation. However, half of the patients included in this study demonstrated various degrees of progressive hearing loss, and also sudden aggravation of hearing was demonstrated in one patient.…”

Section: Discussionmentioning

confidence: 99%

“…However, there are only several studies dealing with hearing outcome of exploratory tympanotomy in patients with BOR syndrome mostly reported before the identification of genetic causes of BOR syndrome, which demonstrated unsatisfactory results [19]. Since variable clinical manifestations concerning onset, degree, type, and progressiveness of hearing loss can be seen in BOR syndrome, auditory rehabilitation in these patients have to be carefully evaluated and managed according to individual conditions.…”

Section: Introductionmentioning

confidence: 99%

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Mutational Analysis of EYA1, SIX1 and SIX5 Genes and Strategies for Management of Hearing Loss in Patients with BOR/BO Syndrome

et al. 2013

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BackgroundBranchio-oto-renal (BOR) or branchio-otic (BO) syndrome is one of the most common forms of autosomal dominant syndromic hearing loss. Mutations in EYA1, SIX1 and SIX5 genes have been associated with BOR syndrome. In this study, clinical and genetic analyses were performed in patients with BOR/BO syndrome focusing on auditory manifestations and rehabilitation.MethodsThe audiologic manifestations were reviewed in 10 patients with BOR/BO syndrome. The operative findings and hearing outcome were analyzed in patients who underwent middle ear surgeries. The modality and outcome of auditory rehabilitation were evaluated. Genetic analysis was performed for EYA1, SIX1, and SIX5 genes.ResultsAll patients presented with mixed hearing loss. Five patients underwent middle ear surgeries without successful hearing gain. Cochlear implantation performed in two patients resulted in significant hearing improvement. Genetic analysis revealed four novel EYA1 mutations and a large deletion encompassing the EYA1 gene.ConclusionsAuditory rehabilitation in BOR/BO syndrome should be individually tailored keeping in mind the high failure rate after middle ear surgeries. Successful outcome can be expected with cochlear implantations in patients with BOR/BO syndrome who cannot benefit from hearing aids. The novel EYA1 mutations may add to the genotypic and phenotypic spectrum of BOR syndrome in the East Asian population.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Mutational Analysis of EYA1, SIX1 and SIX5 Genes and Strategies for Management of Hearing Loss in Patients with BOR/BO Syndrome

et al. 2013

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“…However, families having either branchial and hearing impairment (BO) or branchial and renal defect (BR) are not necessarily due to the same gene affecting three organs, as is true for BOR. Cremers et al, 1981;Melnick et al, 1976;Fraser et al, 1978 …”

Section: Resultsmentioning

confidence: 99%

Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) Gene at 8q13

et al. 1998

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The manifestations of branchio-oto-renal syndrome (BOR), Treacher Collins syndrome, tricho-rhino-phalangeal syndrome, van der Woude syndrome, and Langer-Giedion syndrome are well-defined; these conditions represent clinically and genetically separate syndromes. Autosomal-dominant branchio-oto-renal syndrome comprises preauricular pits, branchial fistulas, hearing loss, and renal anomalies. However, several families have been described without one or more of these clinical findings. In some families, the phenotypic expression is limited to branchial anomalies, preauricular pits, and hearing loss, with no renal dysplasia (branchio-otic or BO syndrome). In other families, branchial and renal anomalies occur without hearing impairment. It is not known whether the variable clinical manifestations are due to the effect of a single gene or whether these represent different syndromes. We investigated BO syndrome in a large family to determine whether BOR and BO syndromes are allelic to each other. The genetic linkage analysis provides evidence that BO syndrome is not allelic to the BOR gene at 8q13.

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“…DISCUSSION Preauricular sinuses, pinna dysplasia, and deafness can be expressions of branchiogenic disorders as observed in Treacher Collins syndrome, the BOR syndrome, and the hemifacial microsomia syndrome. [5][6][7] But these features can exist as separate entities as well.…”

Section: Resultsmentioning

confidence: 99%

Congenital Conductive or Mixed Deafness, Preauricular Sinus, External Ear Anomaly, and Commissural Lip Pits: An Autosomal Dominant Inherited Syndrome

Marres

Cremers²

1991

Ann Otol Rhinol Laryngol

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Branchiogenic syndromes such as branchio-oto-renal syndrome, Treacher Collins syndrome, and hemifacial microsomia are well delineated. From a clinical study in a large family spanning three generations, it can be concluded that the association of conductive deafness, commissural lip pits, preauricular sinuses, and external ear anomalies can be differentiated from the above-mentioned syndromes and is a separate autosomal dominant syndrome.

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Otological Aspects of the Earpit-Deafness Syndrome

Cited by 34 publications

References 6 publications

Mutational Analysis of EYA1, SIX1 and SIX5 Genes and Strategies for Management of Hearing Loss in Patients with BOR/BO Syndrome

Mutational Analysis of EYA1, SIX1 and SIX5 Genes and Strategies for Management of Hearing Loss in Patients with BOR/BO Syndrome

Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) Gene at 8q13

Congenital Conductive or Mixed Deafness, Preauricular Sinus, External Ear Anomaly, and Commissural Lip Pits: An Autosomal Dominant Inherited Syndrome

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