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A F M Snik - One of the best experts on this subject based on the ideXlab platform.

  • efficacy of auditory implants for patients with conductive and Mixed Hearing Loss depends on implant center
    Otology & Neurotology, 2019
    Co-Authors: A F M Snik, Martin Kompis, Thomas Lenarz, Hannes Maier, Bill Hodgetts, Griet Mertens, Paul Van De Heyning, Arjan J Bosman
    Abstract:

    INTRODUCTION: Although from a technological point of view, progress is impressive, most implantable Hearing devices for conductive or Mixed Hearing Loss have a limited capacity. These devices all bypass the impaired middle ear; therefore, the desired amplification (gain) should be based on the cochlear Hearing Loss (component) only. The aim of the study is to review the literature with regard to accomplished gain with current implantable devices. METHOD: Thirty-one articles could be included. Aided thresholds were compared with prescribed values, based on cochlear Hearing Loss (bone-conduction thresholds), according to the well-validated NAL rule. RESULTS: For the majority of the studies, NAL targets were not met. Variation in accomplished gain between implant teams was unacceptably large, largely independent of the type of device that was used. NAL targets were best met at 2 kHz, with worse results at the other frequencies. CONCLUSION: Large variations in reported results were found, which primarily depended on implant center. Based on the analyses, a pragmatic fitting procedure is proposed which should minimize the differences between implant centres.

  • comparison of sound processing strategies for osseointegrated bone conduction implants in Mixed Hearing Loss multiple channel nonlinear versus single channel linear processing
    Otology & Neurotology, 2013
    Co-Authors: Jolien Desmet, Emmanuel A. M. Mylanus, A F M Snik, Arjan J Bosman, Peggy Lambrechts, Myrthe K S Hol, Marc De Bodt, Paul Van De Heyning
    Abstract:

    OBJECTIVES: Evaluation of a single-channel linear bone conduction implant sound processor (S-BCI) and a multiple-channel nonlinear bone conduction implant sound processor (M-BCI) with objective and subjective measures in patients with Mixed Hearing Loss. STUDY DESIGN: In total, 20 patients with Mixed Hearing Loss were included in the study. For either sound processor aided thresholds and speech perception in quiet with monosyllables were measured. Speech perception in noise was measured with sentences. Two different configurations were used: speech and noise at 0 degrees (S0N0) and speech at 0 degrees and noise at 180 degrees (S0N180). The M-BCI was tested in both omnidirectional and directional mode. Patients were first fitted with the S-BCI and evaluated 3 weeks later. The M-BCI was fitted and, again 3 weeks later, evaluated. Subjectively, patients compared both sound processors with the APHAB questionnaire. RESULTS: Aided thresholds were similar for both sound processors in the low- and mid-frequency range. For speech in quiet, no significant differences between both sound processors were observed. For speech in noise in the S0N0 condition, the M-BCI-thresholds were 1.7 dB (SD, 2.2dB; p = 0.002) more favorable than with S-BCI. For the S0N180 configuration, an improvement of 5.8 dB (SD, 2.8 dB; p < 0.001) was seen for the directional mode relative to S-BCI. The APHAB showed statistically significant subjective improvement with the M-BCI on all subscales relative to S-BCI. CONCLUSION: Speech intelligibility in noise is better with M-BCI than with S-BCI. This was attributed to better high-frequency gain provided by the M-BCI. Improved signal processing strategies may have contributed to subjective preference for the M-BCI.

  • better performance with bone anchored Hearing aid than acoustic devices in patients with severe air bone gap
    Laryngoscope, 2011
    Co-Authors: Maarten J F De Wolf, Cor W. R. J. Cremers, Sander Hendrix, A F M Snik
    Abstract:

    Objectives/Hypothesis: A study performed in the 1990s with analogue linear Hearing aids showed that in patients with Mixed Hearing Loss and an air-bone gap that exceeded 25 to 30 dB, speech perception was better with a bone-anchored Hearing aid (Baha) than with a conventional behind-the-ear (BTE) device. The objective of the present study was to investigate whether this conclusion applies to today's digital BTEs with feedback cancellation and whether the crossover point still occurs at an air-bone gap of 25 to 30 dB. Study Design: Case control. Methods: Experienced unilateral Baha users with the latest digital Baha processors were fitted with a powerful BTE with feedback cancellation. After an acclimatization period of 4 weeks, aided thresholds and speech recognition scores were determined and compared to those recorded previously with the Baha. To obtain patients' opinions, a disability-specific questionnaire was used. Participants comprised 16 subjects with bilateral Mixed Hearing Loss participated Results: Audiometric and speech recognition data showed similar trends to those described previously, but the crossover point had shifted to an air-bone gap of 30 to 35 dB. In the questionnaire, the BTE was rated higher than the Baha, except by the patients with an air-bone gap that exceeded an average of 45 dB. Conclusions: In patients with Mixed Hearing Loss whose air-bone gap exceeded 35 dB, speech recognition is likely to be better with a Baha than with a BTE. Therefore, the Baha should receive greater consideration when Mixed Hearing Loss is combined with a significant air-bone gap, even when there are no contraindications for BTEs. Laryngoscope, 2011

  • intraoperative auditory steady state response measurements during vibrant soundbridge middle ear implantation in patients with Mixed Hearing Loss preliminary results
    Otology & Neurotology, 2010
    Co-Authors: Veronique J O Verhaegen, Cor W. R. J. Cremers, Jef J S Mulder, John F P Noten, Bart M A Luijten, A F M Snik
    Abstract:

    OBJECTIVE: To optimize intraoperatively the coupling of the floating mass transducer (FMT) of the Vibrant Soundbridge middle ear implant to the round or oval cochlear window in patients with Mixed Hearing Loss. STUDY DESIGN: Intraoperative measurement of objective Hearing thresholds using auditory steady state responses (ASSRs). SETTING: Radboud University Nijmegen Medical Centre, tertiary referral hospital. PATIENTS: Four individuals with Mixed Hearing Loss and, at least no incus, in need for a middle ear implant. INTERVENTION: Surgical placement of the Vibrant Soundbridge. ASSR thresholds were measured intraoperatively, whereas FMT coupling to the cochlea was manipulated to find the most effective coupling of the FMT. MAIN OUTCOME MEASURE: Differences in ASSR thresholds between different FMT coupling options within patients. RESULTS: With ASSR, we assessed placement of the FMT in the round window niche, loosely or tightly packed in the niche; creation of a mobile window in case of a fixed stapes footplate; and FMT position coupled to the stapes that afforded vibration in the natural vibration direction or perpendicular to it. Furthermore, test-retest variations in ASSR thresholds were studied. It was shown that differences in ASSR thresholds could be detected, while manipulating the FMT couplings, which were statistically significant. CONCLUSION: Intraoperative ASSR measurement is a good method to study different positions of the FMT and to determine the best position of the FMT for a patient.

Liliana Colletti - One of the best experts on this subject based on the ideXlab platform.

  • electrocochleography in round window vibrant soundbridge implantation
    Otolaryngology-Head and Neck Surgery, 2011
    Co-Authors: Vittorio Colletti, Marco Mandala, Liliana Colletti
    Abstract:

    Objective. To determine the role of intraoperative electrocochleography to optimize the fitting of the floating mass transducer of the Vibrant Soundbridge on the round window membrane in patients with conductive and Mixed Hearing Loss.Study Design. Prospective cohort study.Setting. Tertiary referral center, Otolaryngology Department, University of Verona, Verona, Italy.Subjects and Methods. Twenty-six adult patients suffering from chronic otitis media with moderate to severe conductive and Mixed Hearing Loss, all with previous unsuccessful functional surgery, underwent round window vibroplasty. Thirteen subjects had intraoperative compound cochlear action potentials measured to assess vibroplasty coupling during and after surgery. In these patients, surgery was modified according to electrocochleographic feedback. The other 13 had vibroplasty without electrocochleography monitoring.Results. The average preoperative air conduction and bone conduction thresholds (0.5-4 kHz) were not statistically significan...

  • treatment of the atretic ear with round window vibrant soundbridge implantation in infants and children electrocochleography and audiologic outcomes
    Otology & Neurotology, 2011
    Co-Authors: Marco Mandala, Liliana Colletti, Vittorio Colletti
    Abstract:

    OBJECTIVE To evaluate the long-term outcomes of the first 5 infants and 9 children with congenital aural atresia (CAA) who had undergone Hearing rehabilitation using the MED-EL Vibrant Soundbridge with intraoperative assistance of electrocochleography (ECoG) for optimal fitting of the floating mass transducer (FMT) on the round window (RW) membrane. STUDY DESIGN Tertiary referral medical center; retrospective case series. PATIENTS Infants and children ranging in age from 2 months to 16 years with a moderate-to-severe conductive or Mixed Hearing Loss with CAA. For comparison, the study population was divided into 2 groups: older children (≥5 yr of age; 5 patients) and younger children/infants (<5 yr of age; 9 subjects) who were submitted to different audiologic tests appropriate for their age and general condition. INTERVENTION RW implantation. MAIN OUTCOME MEASURES Compound action potential threshold and amplitude were assessed as a function of different methods for stabilizing the FMT on the RW. Pure tone audiogram at 0.5, 1, 2, and 4 kHz, free-field speech testing (older children), bone conduction and free-field auditory brainstem response (ABR; younger children and infants), intraoperative and postoperative complications, and FMT displacement or extrusion rate. RESULTS Statistically significant differences were observed with ECoG recordings between pre- and post-FMT-RW membrane optimization with fascia and cartilage (p < 0.001). Significant improvements were observed in speech perception and pure-tone and ABR threshold, immediately after surgery and at follow-up intervals (12-65 mo) in children and infants (p < 0.01). No complications or instances of device extrusion were observed. CONCLUSION Infants and children with moderate-to-severe conductive or Mixed Hearing Loss, not suitable or unwilling to accept Bone-Anchored Hearing Aids and who would not tolerate traditional bone and air conduction Hearing aids, obtain substantial benefit with the FMT-RW implantation procedure. Intraoperative ECoG is of significant help in achieving the best FMT-RW fitting.

  • the floating mass transducer for external auditory canal and middle ear malformations
    Otology & Neurotology, 2011
    Co-Authors: Liliana Colletti, Marco Mandala, Marco Carner, Sheila Veronese, Vittorio Colletti
    Abstract:

    OBJECTIVE The indications for the Med-El Vibrant Soundbridge, currently limited to patients with sensorineural Hearing Loss and normal middle ear function, have been extended to include patients with conductive or Mixed Hearing Loss because of severe acquired or congenital ossicular chain defects. Patients with congenital aural atresia have combined malformations of the external auditory canal and the middle ear, often accompanied by severe Mixed Hearing impairment. Long-term results of traditional surgical techniques for treatment of congenital aural atresia show a persistent air-bone gap in most patients, suggesting that new and better techniques for Hearing rehabilitation in these patients would be of value. This study demonstrates that placement of the floating mass transducer of the Med-El Vibrant Soundbridge on the round window (RW) allows optimal amplification and enables the restoration of good Hearing in these patients. STUDY DESIGN Retrospective case review. SETTING Tertiary referral center. PATIENTS The study population comprised 12 patients-5 adults and 7 children-with severe external auditory canal and middle ear malformations. The patients were either judged not to be candidates for air conduction Hearing aids or declined bone conduction and Bone-Anchored Hearing Aids. INTERVENTION RW implantation. MAIN OUTCOME MEASURES Pure-tone threshold and speech understanding. RESULTS Significant improvements were observed in pure-tone threshold and speech understanding immediately after surgery and at follow-up intervals ranging from 12 to 48 months. No complications or instances of device extrusion were observed in these patients. CONCLUSION The results suggest that RW implantation offers a viable and improved treatment option for patients with severe Mixed Hearing Loss and congenital malformation of the outer and middle ear.

  • treatment of Mixed Hearing Losses via implantation of a vibratory transducer on the round window
    International Journal of Audiology, 2006
    Co-Authors: Vittorio Colletti, Marco Carner, Sigfrid D Soli, Liliana Colletti
    Abstract:

    Early clinical findings are reported for subjects implanted with the Vibrant Med-El Soundbridge (VSB) device. The present criteria for the VSB, limiting its application to patients with normal middle ear function, have been extended to include patients with ossicular chain defects. Seven patients with severe Mixed Hearing Loss were implanted with the transducer placed onto the round window. All had undergone previous surgery: six had multiple ossiculoplasties, and one had the VSB crimped on the incus with unsuccessful results. Round window implantation bypasses the normal conductive path and provides amplified input to the cochlea. Post-operative aided thresholds of 30 dB HL were achieved for most subjects, as compared with unaided thresholds ranging from 60-80 dB HL. Aided speech reception thresholds at 50% intelligibility were 50 dB HL, with most subjects reaching 100% intelligibility at conversational levels, while unaided thresholds averaged 80 dB HL, with only one subject reaching 100% intelligibility. These results suggest that round window implantation may offer a viable treatment option for individuals with severe Mixed Hearing Losses who have undergone unsuccessful ossiculoplasties.

Jae Young Choi - One of the best experts on this subject based on the ideXlab platform.

  • results of the active middle ear implantation in patients with Mixed Hearing Loss after the middle ear surgery prospective multicenter study romeo study
    Clinical and Experimental Otorhinolaryngology, 2021
    Co-Authors: Chan Il Song, Jae Young Choi, Hyongho Cho, Byung Yoon Choi, Jin Woong Choi, Yunhoon Choung, Jong Woo Chung, Wonho Chung, Sung Hwa Hong, Yehree Kim
    Abstract:

    Objectives: To evaluate the user satisfaction, efficacy, and safety of round window (RW) vibroplasty using the Vibrant Soundbridge (VSB) in patients with persistent Mixed Hearing Loss after mastoidectomy. Methods: The study included twenty-seven patients (mean age, 58.7 years; age range, 28-76 years; 11 men and 16 women) with Mixed Hearing Loss after mastoidectomy surgery from 15 tertiary referral centers in Korea. The VSB was implanted at the RW. The Korean translation of the Abbreviated Profile of Hearing Aid Benefit (APHAB) questionnaire and the Korean version of the International Outcome Inventory for Hearing Aids (K-IOI-HA) questionnaire were used to evaluate user satisfaction as the primary outcome. Secondary outcome measures were audiological test results and complication rates. Results: The mean scores on the Ease of Communication (61.3% → 29.7% → 30.2%), Reverberation (62.1% → 43.1% → 37.4%), and Background Noise (63.3% → 37.7% → 34.3%) subscales of the APHAB questionnaire were significantly reduced after VSB surgery. Mean K-IOI-HA scores at 3 and 6 months after surgery were significantly higher than the mean preoperative score (18.6 → 26.8 → 28.0). Postoperative VSB-aided thresholds were significantly lower than preoperative unaided and Hearing aid (HA)-aided thresholds. There was no significant difference between preoperative unaided, preoperative HA-aided, and postoperative VSB-aided maximum phonetically balanced word-recognition scores. None of the 27 patients experienced a change in postoperative bone conduction pure tone average (PTA). One patient developed temporary facial palsy and two developed surgical wound infections. Conclusion: RW vibroplasty resulted in improved satisfaction and audiological test results in patients with Mixed Hearing Loss after mastoidectomy surgery, and the complication rate was tolerable.

  • clinical experience of vibroplasty with direct coupling to the oval window without use of a coupler
    Laryngoscope, 2020
    Co-Authors: Sang Hyun Kwak, Young Min Moon, Gisung Nam, Seong Hoon Bae, Sung Huhn Kim, Jinsei Jung, Jae Young Choi
    Abstract:

    Objectives/hypothesis To investigate the efficacy of direct implantation of a Vibrant Soundbridge (VSB) implant in the oval window (OW) without the use of an OW coupler in patients with severe Mixed Hearing Loss. Study design Retrospective chart review METHODS: A total of 62 patients underwent VSB implantation between July 2016 and December 2018 at Severance Hospital in Seoul, South Korea. Among them, eight patients (nine ears) with moderate-to-severe Mixed Hearing Loss were implanted with a VSB directly in the OW. A floating mass transducer (FMT) was attached to the stapes footplate and covered with tragal cartilage. The outcomes were evaluated using pure-tone audiogram and speech audiogram preoperatively and postoperatively. Word recognition score (WRS; % correct) were measured at the most comfortable loudness (MCL) level to evaluate speech perception. Results All cases posed difficulty with round window vibroplasty during surgery, and eventually, an FMT was appropriately placed in the OW without a coupler. Preoperative and postoperative bone conduction thresholds were not different. VSB-aided threshold improved in terms of functional and effective gains. Interestingly, four cases showed improved air conduction thresholds without the use of a VSB. In addition, MCL level with a VSB was significantly lower than that with a Hearing aid, and VSB-aided WRS improved over time. Conclusions Direct implantation of a VSB in the OW without the use of a coupler showed favorable Hearing outcomes, and the OW vibroplasty was safe. Direct OW vibroplasty without a coupler is a reliable procedure and can be a good option for Hearing rehabilitation in patients with severe Mixed Hearing Loss. Level of evidence 4 Laryngoscope, 2020.

  • benefits of active middle ear implants in Mixed Hearing Loss stapes versus round window
    Laryngoscope, 2017
    Co-Authors: Jeon Mi Lee, Jinsei Jung, Sung Huhn Kim, In Seok Moon, Jae Young Choi
    Abstract:

    Objectives/hypothesis We compared the audiologic benefits of active middle ear implants with those of passive middle ear implants with Hearing aids in Mixed Hearing Loss, and also compared the outcomes of stapes vibroplasty with those of round window vibroplasty. Study design Retrospective chart review. Methods Thirty-four patients with Mixed Hearing Loss due to chronic otitis media were treated with a middle ear implant. Of these, 15 were treated with a passive middle ear implant (conventional ossiculoplasty with a partial ossicular replacement prosthesis), nine with an active middle ear implant coupling to the stapes, and 10 with an active middle ear implant coupling to the round window. Patients underwent pure-tone/free-field audiograms and speech discrimination tests before surgery and 6 months after surgery, and the results of these tests were compared. Results The active middle ear implant resulted in better outcomes than the passive middle ear implant with Hearing aids at mid to high frequencies (P Conclusions Active middle ear implantation could be a better option than treatment with passive middle ear implants with Hearing aids for achieving rehabilitation in patients with Mixed Hearing Loss. Vibroplasty via either oval window or round window stimulation shares similar good results. Level of evidence 4 Laryngoscope, 127:1435-1441, 2017.

Vittorio Colletti - One of the best experts on this subject based on the ideXlab platform.

  • electrocochleography in round window vibrant soundbridge implantation
    Otolaryngology-Head and Neck Surgery, 2011
    Co-Authors: Vittorio Colletti, Marco Mandala, Liliana Colletti
    Abstract:

    Objective. To determine the role of intraoperative electrocochleography to optimize the fitting of the floating mass transducer of the Vibrant Soundbridge on the round window membrane in patients with conductive and Mixed Hearing Loss.Study Design. Prospective cohort study.Setting. Tertiary referral center, Otolaryngology Department, University of Verona, Verona, Italy.Subjects and Methods. Twenty-six adult patients suffering from chronic otitis media with moderate to severe conductive and Mixed Hearing Loss, all with previous unsuccessful functional surgery, underwent round window vibroplasty. Thirteen subjects had intraoperative compound cochlear action potentials measured to assess vibroplasty coupling during and after surgery. In these patients, surgery was modified according to electrocochleographic feedback. The other 13 had vibroplasty without electrocochleography monitoring.Results. The average preoperative air conduction and bone conduction thresholds (0.5-4 kHz) were not statistically significan...

  • treatment of the atretic ear with round window vibrant soundbridge implantation in infants and children electrocochleography and audiologic outcomes
    Otology & Neurotology, 2011
    Co-Authors: Marco Mandala, Liliana Colletti, Vittorio Colletti
    Abstract:

    OBJECTIVE To evaluate the long-term outcomes of the first 5 infants and 9 children with congenital aural atresia (CAA) who had undergone Hearing rehabilitation using the MED-EL Vibrant Soundbridge with intraoperative assistance of electrocochleography (ECoG) for optimal fitting of the floating mass transducer (FMT) on the round window (RW) membrane. STUDY DESIGN Tertiary referral medical center; retrospective case series. PATIENTS Infants and children ranging in age from 2 months to 16 years with a moderate-to-severe conductive or Mixed Hearing Loss with CAA. For comparison, the study population was divided into 2 groups: older children (≥5 yr of age; 5 patients) and younger children/infants (<5 yr of age; 9 subjects) who were submitted to different audiologic tests appropriate for their age and general condition. INTERVENTION RW implantation. MAIN OUTCOME MEASURES Compound action potential threshold and amplitude were assessed as a function of different methods for stabilizing the FMT on the RW. Pure tone audiogram at 0.5, 1, 2, and 4 kHz, free-field speech testing (older children), bone conduction and free-field auditory brainstem response (ABR; younger children and infants), intraoperative and postoperative complications, and FMT displacement or extrusion rate. RESULTS Statistically significant differences were observed with ECoG recordings between pre- and post-FMT-RW membrane optimization with fascia and cartilage (p < 0.001). Significant improvements were observed in speech perception and pure-tone and ABR threshold, immediately after surgery and at follow-up intervals (12-65 mo) in children and infants (p < 0.01). No complications or instances of device extrusion were observed. CONCLUSION Infants and children with moderate-to-severe conductive or Mixed Hearing Loss, not suitable or unwilling to accept Bone-Anchored Hearing Aids and who would not tolerate traditional bone and air conduction Hearing aids, obtain substantial benefit with the FMT-RW implantation procedure. Intraoperative ECoG is of significant help in achieving the best FMT-RW fitting.

  • the floating mass transducer for external auditory canal and middle ear malformations
    Otology & Neurotology, 2011
    Co-Authors: Liliana Colletti, Marco Mandala, Marco Carner, Sheila Veronese, Vittorio Colletti
    Abstract:

    OBJECTIVE The indications for the Med-El Vibrant Soundbridge, currently limited to patients with sensorineural Hearing Loss and normal middle ear function, have been extended to include patients with conductive or Mixed Hearing Loss because of severe acquired or congenital ossicular chain defects. Patients with congenital aural atresia have combined malformations of the external auditory canal and the middle ear, often accompanied by severe Mixed Hearing impairment. Long-term results of traditional surgical techniques for treatment of congenital aural atresia show a persistent air-bone gap in most patients, suggesting that new and better techniques for Hearing rehabilitation in these patients would be of value. This study demonstrates that placement of the floating mass transducer of the Med-El Vibrant Soundbridge on the round window (RW) allows optimal amplification and enables the restoration of good Hearing in these patients. STUDY DESIGN Retrospective case review. SETTING Tertiary referral center. PATIENTS The study population comprised 12 patients-5 adults and 7 children-with severe external auditory canal and middle ear malformations. The patients were either judged not to be candidates for air conduction Hearing aids or declined bone conduction and Bone-Anchored Hearing Aids. INTERVENTION RW implantation. MAIN OUTCOME MEASURES Pure-tone threshold and speech understanding. RESULTS Significant improvements were observed in pure-tone threshold and speech understanding immediately after surgery and at follow-up intervals ranging from 12 to 48 months. No complications or instances of device extrusion were observed in these patients. CONCLUSION The results suggest that RW implantation offers a viable and improved treatment option for patients with severe Mixed Hearing Loss and congenital malformation of the outer and middle ear.

  • treatment of Mixed Hearing Losses via implantation of a vibratory transducer on the round window
    International Journal of Audiology, 2006
    Co-Authors: Vittorio Colletti, Marco Carner, Sigfrid D Soli, Liliana Colletti
    Abstract:

    Early clinical findings are reported for subjects implanted with the Vibrant Med-El Soundbridge (VSB) device. The present criteria for the VSB, limiting its application to patients with normal middle ear function, have been extended to include patients with ossicular chain defects. Seven patients with severe Mixed Hearing Loss were implanted with the transducer placed onto the round window. All had undergone previous surgery: six had multiple ossiculoplasties, and one had the VSB crimped on the incus with unsuccessful results. Round window implantation bypasses the normal conductive path and provides amplified input to the cochlea. Post-operative aided thresholds of 30 dB HL were achieved for most subjects, as compared with unaided thresholds ranging from 60-80 dB HL. Aided speech reception thresholds at 50% intelligibility were 50 dB HL, with most subjects reaching 100% intelligibility at conversational levels, while unaided thresholds averaged 80 dB HL, with only one subject reaching 100% intelligibility. These results suggest that round window implantation may offer a viable treatment option for individuals with severe Mixed Hearing Losses who have undergone unsuccessful ossiculoplasties.

Michael Melnick - One of the best experts on this subject based on the ideXlab platform.

  • branchio oto renal dysplasia and branchio oto dysplasia two distinct autosomal dominant disorders
    Clinical Genetics, 2008
    Co-Authors: Michael Melnick, M E Hodes, Walter E Nance, H Yune, A Sweeney
    Abstract:

    Three families are presented, one with branchio-oto-renal dysplasia (BOR) and two with branchio-oto dysplasia (BO). The former syndrome is characterized by external ear malformations, cervical fistulae, Mixed Hearing Loss and renal anomalies of varying severity. The latter syndrome differs in that there are no renal anomalies and that the sensorineural component of the Hearing Loss may be absent. The external ear malformations are quite variable in both syndromes. Evidence is presented which supports the idea that these two syndromes are not phenotypic variants of the same autosomal dominant mutation but distinct disease entities. The BOR syndrome appears to belong to a larger group of hereditary ear dysplasia-renal adysplasia syndromes that must be carefully ruled out in all patients with familial branchial arch malformations as well as in the parents and siblings of infants with "Potter facies" in the presence of auricular malformation and renal adysplasia.

  • familial branchio oto renal dysplasia a new addition to the branchial arch syndromes
    Clinical Genetics, 2008
    Co-Authors: Michael Melnick, Walter E Nance, David Bixler, Kenneth Silk, H Yune
    Abstract:

    The present report concerns a two-generation family of nine individuals in which the father and three of the six living children all had: (1) a Mixed Hearing Loss with a Mondini type cochlear malformation and stapes fixation; (2) cup-shaped, anteverted pinnae with bilateral prehelical pits: (3) bilateral branchial cleft fistulas; and (4) bilateral renal dysplasia and anomalies of the collecting system. The father and one affected son also had aplasia of the lacrimal ducts. A fourth child who died at 5 months of age was reported to have branchial cleft fistulas and bilateral polycystic kidneys at autopsy. In addition, the concept of noso-embryologic communities is presented. Such groups are composed of syndromes whose total phenotypic spectra not only overlap but also share common elements in embryogenesis. This concept is illustrated with a group of branchial arch syndromes that are related in this way.