Non-inherited manifestation of bilateral branchial fistulae, bilateral pre-auricular sinuses and bilateral hearing loss: A variant of branchio-oto-renal syndrome

Rana, Indu; Dhawan, Rajiv; Gudwani, Sanjay; Bothra, Rajendra; Mathur, N. N.

doi:10.1007/bf02907630

Cited by 4 publications

(8 citation statements)

References 8 publications

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“…Tympanic membrane perforations were reported by Bisanna et al; however, Castiglione et al and Millman et al reported normal otoscopic examinations 57,66,72 . In three studies, there was poor or absent pneumatization of the mastoid, 29,53,71 with increased bilateral pneumatisation reported in one study 73 . Other abnormalities included an absent Koerner's septum, 11 hypoplastic, enlarged or absent antrum, 11,46,54 tympanic plate defects, 31 large mastoid emissary vein, 66 sclerotic mastoid, 57 and absent or hypoplastic mastoid cells 33,67 …”

Section: Resultsmentioning

confidence: 86%

“…A range of BOR symptoms were described, with 42 studies (66%) involving patients with renal manifestations 1,4,13,16,23,24,27–63 including renal hypoplasia 16,27,42,43,46,52,58–60 or agenesis, 16,29,33,35,41,55,57,61 hydronephrosis, 16,31,32,53,54 secondary arterial hypertension, 58 mesangial cell glomerulitis, 64 and renal failure of varying degrees 28,36,37,42,47,50,52,54,58 . In 53 of the 64 studies, authors reported patients with preauricular pits, tags, clefts, or sinuses 1,4,13,16,23–35,37–47,49–53,55–62,64–74 and in 47 studies, patients with branchial cleft abnormalities were described 1,4,13,16,23,24,27–32,34–49,52–54,56,57,59–63,65–69...…”

Section: Resultsmentioning

confidence: 99%

“…Facial anomalies were described in several studies including dysmorphic features, 33,39 lacrimal anomalies, 1,39,42,46,49,50,56,59,69 palatine malformations, 16,33,36,42,46,47,49,50,64 hemifacial microsomia, 31,36 facial nerve paresis, 16,24,58 prominent epicanthic folds, 41 jaw anomalies, 16,45,46 iris atrophy, 16 and microdontia 51 . Other clinical manifestations described included cardiac malformations, 16,36,45,56 developmental delay, 49,63 mental retardation 24,53 . hip dysplasia, 46 osteosclerosis, 49 imperforate anus, 16,49 intracranial hemorrhage, 16 sloping shoulder deformity, 50 diabetes mellitus, 49 and epilepsy 49,63 …”

Section: Resultsmentioning

confidence: 99%

“…External auditory canal anomalies and ankylotia 4,16,45,53,63,68,69,71 were reported alongside abnormal external ear appearances, 16,40,44,56,63,68,71 including specific descriptions of cup‐shaped pinnae, 1,27–29,35,41–43,45,49,53,54,57,64 microtia, 29,42,50,62,68 “lop,” 4,30,52,55,69 low‐set, 35,55,57 or protuberant ears 34,39 …”

Section: Resultsmentioning

confidence: 99%

“…28,36,37,42,47,50,52,54,58 In 53 of the 64 studies, authors reported patients with preauricular pits, tags, clefts, or sinuses 1,4,13,16,23-35,37-47,49-53,55-62,64-74 and in 47 studies, patients with branchial cleft abnormalities were described. 1,4,13,16,23,24,[27][28][29][30][31][32][34][35][36][37][38][39][40][41][42][43][44][45][46][47][48][49][52][53][54]56,57,[59][60][61][62][63][65][66][67][68]…”

Section: Bor Spectrummentioning

confidence: 99%

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Anatomical and audiological considerations in branchiootorenal syndrome: A systematic review

Biggs

Crundwell

Metcalfe

et al. 2022

Laryngoscope Investig Oto

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Objective Establish anatomical considerations, audiological outcomes, and optimal management in patients with branchiootic/branchiootorenal syndrome (BO/BOR). Methods Databases reviewed: Medline, Pubmed, Embase, Web of Science, Cochrane Collection, and http://clinicaltrials.gov. Clinical or radiological studies of patients with BOR syndrome describing either the audiological profile or anatomical changes were included. Articles in which BOR syndrome was associated with other syndromes, and those that were focused only on general and genetic aspects of BOR syndrome were excluded. Articles were assessed using Oxford Centre for Evidence‐Based Medicine (OCEBM) grading system and the Brazzelli risk of bias tool for nonrandomized studies. Results Searches identified 379 articles. Of these, 64 studies met the inclusion criteria, reporting outcomes in 482 patients from at least 95 families. In 308 patients, hearing loss was categorized as sensorineural (29%), conductive (20%), and mixed (51%). Hearing outcomes were variable in terms of onset, pattern, and severity; ranging from mild to profound deafness. One hundred sixty‐nine patients presented with inner ear anomalies, 145 had middle, and 151 had external ear abnormalities. In 44 studies, 58 ear operations were described. Mixed outcomes were reported in patients managed with hearing aids or middle ear surgery; however, successful cochlear implantation was described in all five cases. Conclusion The anatomical and audiological profiles of patients with BO/BOR are variable. A range of surgical procedures were described, however lacked objective outcome measures. Given the range of anatomical variants, management decisions should be made on an individual basis including full audiological and radiological assessment. Level of evidence NA.

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Section: Resultsmentioning

confidence: 86%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Bor Spectrummentioning

confidence: 99%

See 3 more Smart Citations

Anatomical and audiological considerations in branchiootorenal syndrome: A systematic review

Biggs

Crundwell

Metcalfe

et al. 2022

Laryngoscope Investig Oto

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Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review

Lindau

Cardoso

Rossi

et al. 2013

Int. Arch. Otorhinolaryngol.

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Introduction Branchio-oto-renal (BOR) syndrome is an autosomal-dominant genetic condition with high penetrance and variable expressivity, with an estimated prevalence of 1 in 40,000. Approximately 40% of the patients with the syndrome have mutations in the gene EYA1, located at chromosomal region 8q13.3, and 5% have mutations in the gene SIX5 in chromosome region 19q13. The phenotype of this syndrome is characterized by preauricular fistulas; structural malformations of the external, middle, and inner ears; branchial fistulas; renal disorders; cleft palate; and variable type and degree of hearing loss. Aim Hearing loss is part of BOR syndrome phenotype. The aim of this study was to present a literature review on the anatomical aspects and audiological profile of BOR syndrome. Data Synthesis Thirty-four studies were selected for analysis. Some aspects when specifying the phenotype of BOR syndrome are controversial, especially those issues related to the audiological profile in which there was variability on auditory standard, hearing loss progression, and type and degree of the hearing loss. Mixed loss was the most common type of hearing loss among the studies; however, there was no consensus among studies regarding the degree of the hearing loss.

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Coexisting First and Bilateral Second Branchial Fistulas in a Child with Nonfamilial Branchio-Otic Syndrome

Lapeña

Jimena

2013

Ear Nose Throat J

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We describe what we believe is only the third reported case of coexisting first and bilateral second branchial fistulas associated with nonfamilial branchio-otic syndrome. The patient was a 6-year-old girl who presented with bilaterally draining anterior neck puncta, a preauricular sinus, and moderately severe bilateral hearing loss. She had no family history of branchial anomalies. Compared with branchial cysts and sinuses, branchial fistulas are rare. Even more rare are bilateral second branchial fistulas coexisting with first branchial anomalies, as only 10 cases have been previously reported in the English-language literature. Of these 10 cases, 5 were associated with either branchio-otic syndrome or branchio-oto-renal syndrome; 2 patients had familial branchio-otic syndrome, 2 had nonfamilial branchio-otic syndrome, and 1 had nonfamilial branchiooto-renal syndrome.

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Non-inherited manifestation of bilateral branchial fistulae, bilateral pre-auricular sinuses and bilateral hearing loss: A variant of branchio-oto-renal syndrome

Cited by 4 publications

References 8 publications

Anatomical and audiological considerations in branchiootorenal syndrome: A systematic review

Anatomical and audiological considerations in branchiootorenal syndrome: A systematic review

Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review

Coexisting First and Bilateral Second Branchial Fistulas in a Child with Nonfamilial Branchio-Otic Syndrome

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