Diagnostic and surgical challenge: Middle ear dermoid cyst in 12 month old with branchio-oto-renal syndrome and multiple middle-ear congenital anomalies

Johnston, Douglas R.; Whittemore, Kenneth R.; Poe, Dennis S.; Robson, Caroline D.; Perez‐Atayde, Antonio R.

doi:10.1016/j.ijporl.2011.07.025

Cited by 10 publications

(24 citation statements)

References 15 publications

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“…The residual opacification in the hypotympanum on the postoperative CT could signify the origin of the mass. This raised similarities to a previous case report from our institution, in which a patient with branchio‐oto‐renal syndrome was found to have a middle ear hairy polyp that originated from the border of the eustachian tube adjacent to the glenoid fossa and hypotympanum …”

Section: Discussionsupporting

confidence: 80%

“…Traditionally, hairy polyps or dermoids are considered one of the four germ‐layer lesions proposed by Arnold in 1870; hairy polyps being the only bigeminal lesion, with ectodermal and mesodermal tissue, whereas teratoids, teratomas, and epignathi representing trigeminal lesions at varying levels of differentiation . Hairy polyps are not definitively associated with any particular syndrome, though they have been noted to occur more frequently in patients with first and second branchial arch anomalies such as those with branchio‐oto‐renal syndrome and aural atresia . This has led some to speculate that they are displaced first pharyngeal pouch or second branchial arch tissue .…”

Section: Discussionmentioning

confidence: 99%

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Hairy polyps: A new case presentation and a pathogenetic hypothesis

et al. 2018

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Hairy polyps are benign lesions found in the oropharynx or nasopharynx that are thought to be present at birth and can lead to upper airway obstruction in infants. Also known as naso‐oropharyngeal choristoma, they are increasingly viewed as aggregates of bigeminal tissue, likely from the first or second branchial arches, found in aberrant locations. They are benign lesions that are usually successfully treated by surgical excision. Here we present a rare case of a hairy polyp originating in the eustachian tube of a 7‐week‐old male, discuss our management of the patient, and put forth a new hypothesis as to the origin of these lesions. Laryngoscope, 129:2398–2402, 2019

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Section: Discussionsupporting

confidence: 80%

Section: Discussionmentioning

confidence: 99%

Hairy polyps: A new case presentation and a pathogenetic hypothesis

et al. 2018

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“…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%

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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“…The manifestations of BOR syndrome can also be composed of craniofacial abnormalities such as microcephaly, 39 hemifacial microsomy, 40 long face syndrome associated with lacrimal duct stenosis, 5 7 14 17 41 42 overbite palate, 17 and retrognathia. 39 The presence of micrognathia, 43 hypodontia, 39 and microdontia associated with malformations of permanent molars 44 were also reported.…”

Section: Introductionmentioning

confidence: 99%

“… 16 However, a case with a bifid kidney, double ureter, and vesicoureteric reflux 46 as well as two patients who reported congenital hydronephrosis were described. 40 Only one case has been described with severe reduction in kidney volume without family history of this condition, 47 and there was another case with renal agenesis. 48 …”

Section: Introductionmentioning

confidence: 99%

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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Diagnostic and surgical challenge: Middle ear dermoid cyst in 12 month old with branchio-oto-renal syndrome and multiple middle-ear congenital anomalies

Cited by 10 publications

References 15 publications

Hairy polyps: A new case presentation and a pathogenetic hypothesis

Hairy polyps: A new case presentation and a pathogenetic hypothesis

Anatomical and audiological considerations in branchiootorenal syndrome: A systematic review

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

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