Melnick et al55 Melnick M, Bixler D, Nance WE, Silk K, Yune H. Familial branchiooto-
renal dysplasia: a new addition to the branchial arch syndromes. Clin Genet
1976;9:25-34
|
Mixed |
– |
– |
Mondini-type cochlear malformation and stapes fixation |
Fraser et al66 Fraser FC, Ling D, Clogg D, Nogrady B. Genetic aspects of the BOR
syndrome-branchial fistulas, ear pits, hearing loss, and renal anomalies. Am J Med
Genet 1978;2:241-252
|
Conductive/mixed |
Mild to severe |
Progressive |
OC changes, ME fluid, otosclerosis |
Cremers, Fikkers-Van Noord77 Cremers CW, Fikkers-Van Noord M. The earpits-deafness syndrome.
Clinical and genetic aspects. Int J Pediatr Otorhinolaryngol
1980;2:309-322
|
Conductive/mixed/sensorineural |
– |
– |
Cochlear hypoplasia/dysplasia, narrow or wide internal
auditory canal, OC anomalies, horizontal SC with reduced size |
Ostri et al1212 Ostri B, Johnsen T, Bergmann I. Temporal bone findings in a family
with branchio-oto-renal syndrome (BOR). Clin Otolaryngol Allied Sci
1991;16:163-167
|
Mixed |
Moderate to severe |
Stable |
Cochlear hypoplasia, SC hypoplasia and abnormal duct
endolymphatic, massive OC and reduced size of ME |
König et al2020 König R, Fuchs S, Dukiet C. Branchio-oto-renal (BOR) syndrome:
variable expressivity in a five-generation pedigree. Eur J Pediatr
1994;153:446-450
|
Mixed |
Severe |
– |
Malformation of OC |
Chen et al1919 Chen A, Francis M, Ni L, et al. Phenotypic manifestations of
branchio-oto-renal syndrome. Am J Med Genet 1995;58:365-370
|
Conductive/mixed/sensorineural |
Mild to profound |
Progressive/stable |
Stenosis of the EEC, malformation of OC, cochlear
hypoplasia/dysplasia and enlargement of the endolymphatic duct |
Millman et al3838 Millman B, Gibson WS, Foster WP. Branchio-oto-renal syndrome. Arch
Otolaryngol Head Neck Surg 1995;121:922-925
|
– |
Severe |
– |
– |
Misra, Nolph4343 MisraM, Nolph KD. Renal failure and deafness: branchio-oto-renal
syndrome. Am J Kidney Dis 1998;32:334-337
|
Mixed |
Moderate to severe |
– |
Changes in OC |
Graham et al1616 Graham GE, Allanson JE. Congenital cholesteatoma and malformations of
the facial nerve: rare manifestations of the BOR syndrome. Am J Med Genet
1999;86:20-26
|
Conductive |
Moderate |
Stable |
Cholesteatoma, absence or abnormality of the ossicles and oval
window, TM retraction |
Weber, Kousseff3939 Weber KM, Kousseff BG. New' manifestations of BOR syndrome. Clin
Genet 1999;56:306-312
|
Conductive/sensorineural |
Mild to moderate |
– |
Otosclerosis |
Worley et al1717 Worley GA, Vats A, Harcourt J, Albert DM. Bilateral congenital
cholesteatoma in branchio-oto-renal syndrome. J Laryngol Otol
1999;113:841-843
|
Mixed |
Moderate |
– |
Cholesteatoma, OC anomalies, otitis media—ventilation
tubes |
Prabhu et al4444 Prabhu NT, Alexander S, John R. Branchio-oto-renal syndrome with
generalized microdontia: case report. Oral Surg Oral Med Oral Pathol Oral Radiol
Endod 1999;87:180-183
|
Mixed |
– |
– |
Malformed and hyperplastic right pinna and a preauricular pit
on the left ear |
Usami et al5454 Usami S, Abe S, Shinkawa H, Deffenbacher K, Kumar S, Kimberling WJ.
EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family. J Hum Genet
1999;44:261-265
|
Conductive/mixed |
Mild to moderate |
Stable |
Cochlear hypoplasia of the lateral and posterior semicircular
canal, abnormal OC, soft mass density in the epitympanic and mastoid
cavity |
Bamiou et al5555 Bamiou DE, Phelps P, Sirimanna T. Temporal bone computed tomography
findings in bilateral sensorineural hearing loss. Arch Dis Child
2000;82:257-260
|
– |
– |
– |
Mondini-type cochlear malformation |
Bellini et al4242 Bellini C, Piaggio G, Massocco D, et al. Branchio-oto-renal syndrome:
a report on nine family groups. Am J Kidney Dis 2001; 37:505-509
|
Conductive/mixed/sensorineural |
– |
– |
– |
Stinckens et al1414 Stinckens C, Standaert L, Casselman JW, et al. The presence of a
widened vestibular aqueduct and progressive sensorineural hearing loss in the
branchio-oto-renal syndrome. A family study. Int J Pediatr Otorhinolaryngol
2001;59:163-172
|
Sensorineural |
– |
Progressive |
Enlarged vestibular aqueduct, cochlear hypoplasia |
Kemperman et al1313 Kemperman MH, Stinckens C, Kumar S, Huygen PL, Joosten FB, Cremers
CW. Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear
hypoplasia in branchio-oto-renal syndrome. Otol Neurotol
2001;22:637-643
|
Sensorineural |
Profound |
Progressive/fluctuant |
Cochlear hypoplasia, enlarged vestibular aqueduct |
Klingebiel et al5757 Klingebiel R, Bockmühl U,WerbsM, et al. Visualization of inner ear
dysplasias in patients with sensorineural hearing loss. Acta Radiol
2001;42:574-581
|
– |
– |
– |
Dysplasia of the SC superior, cochlear hypoplasia (1.5
turn) |
Kemperman et al5858 Kemperman MH, Koch SM, Joosten FB, Kumar S, Huygen PL, Cremers CW.
Inner ear anomalies are frequent but nonobligatory features of the branchio-oto-renal
syndrome. Arch Otolaryngol Head Neck Surg 2002;128:1033-1038
|
– |
– |
– |
Enlarged vestibular aqueduct, hypoplastic cochleae and
labyrinths, malformed auricles |
Pierides et al4646 Pierides AM, Athanasiou Y, Demetriou K, Koptides M, Deltas CC. A
family with the branchio-oto-renal syndrome: clinical and genetic correlations.
Nephrol Dial Transplant 2002;17:1014-1018
|
– |
– |
Progressive |
– |
Ceruti et al1515 Ceruti S, Stinckens C, Cremers CW, Casselman JW. Temporal bone
anomalies in the branchio-oto-renal syndrome: detailed computed tomographic and
magnetic resonance imaging findings. Otol Neurotol 2002;23:200-207
|
Sensorineural |
– |
Progressive |
Cochlear hypoplasia/dysplasia, SC malformations, OC
malformations |
Adiego et al1818 Hernández Montero E, Adiego I, Clau F, Fraile J, Llorente E, Ortiz
García A. Síndrome branquio-oto-renal y colesteatoma congénito. O.R.L.-DIPS.
2003;30:222-225
|
Mixed |
Moderate |
– |
EEC stenosis, cholesteatoma, OC malformation, cochlear
hypoplasia, abnormal morphology of the SC |
Kemperman et al5353 Kemperman MH, Koch SM, Kumar S, Huygen PL, Joosten FB, Cremers CW.
Evidence of progression and fluctuation of hearing impairment in branchio-oto-renal
syndrome. Int J Audiol 2004; 43:523-532
|
– |
– |
Progressive/fluctuant |
Enlarged vestibular aqueduct, medial deviation of facial
nerve, cochlear hypoplasia |
Propst et al5959 Propst EJ, Blaser S, Gordon KA, Harrison RV, Papsin BC. Temporal bone
findings on computed tomography imaging in branchio-otorenal syndrome. Laryngoscope
2005;115:1855-1862
|
– |
– |
– |
Cochlear hypoplasia, narrowed internal auditory canal |
Rana et al2323 Rana I, Dhawan R, Gudwani S, Bothra R,Mathur NN. Non-inherited
manifestation of bilateral branchial fistulae, bilateral pre-auricular sinuses and
bilateral hearing loss: a variant of branchio-oto-renal syndrome. Indian J
Otolaryngol Head Neck Surg 2005;57:52-54
|
– |
– |
– |
Pneumatic temporal bone, partial agenesis of the EEC |
Kim et al4949 Kim SH, Shin JH, Yeo CK, et al. Identification of a novel mutation in
the EYA1 gene in a Korean family with branchio-oto-renal (BOR) syndrome. Int J
Pediatr Otorhinolaryngol 2005;69: 1123-1128
|
Mixed |
Moderate to profound |
– |
EEC stenosis, dense mass in the mastoid and tympanic cavity,
cochlear hypoplasia, enlarged vestibular aqueduct, OC malformation, otitis
media |
Kameswaran et al5656 Kameswaran M, Kumar RSA, Murali S, Raghunandhan S, Karthikeyan K.
Cochlear implantation in branchio-oto-renal syndrome- a surgical challenge. Indian J
Otolaryngol Head Neck Surg 2007; 59:280-283
|
Sensorineural |
Profound |
– |
Vestibular dysplasia, SC and ossicles malformation |
Garg et al4747 Garg A, Wadhera R, Gulati SP, Kumar A. Branchio-oto-renal syndrome. J
Assoc Physicians India 2008;56:904-905
|
– |
Moderate to profound |
– |
– |
Furlan et al5151 Furlan RH, Rossi NF, Cardoso ACV, Richieri-Costa A, Motonaga SM,
Giacheti CM. Achados genéticos, audiológicos e da linguagem oral de umnúcleo familial
com diagnóstico da síndrome Branquio-otorenal (SBOR). Paper presented at: XVI
Congresso Brasileiro de Fonoaudiologia; September 24-27, 2008; Campos do Jordão, São
Paulo, Brasil
|
Conductive/mixed |
Mild to moderate to severe |
– |
– |
Senel et al5050 Senel E, Kocak H, Akbiyik F, SaylamG, Gulleroglu BN, Senel S. From a
branchial fistula to a branchiootorenal syndrome: a case report and review of the
literature. J Pediatr Surg 2009;44:623-625
|
Conductive/mixed |
Mild to moderate |
– |
EEC stenosis, auricular malformation, cochlear and SC
hypoplasia, OC malformation |
Ayçiçek et al4545 Ayçiçek A, Saglam H, Koçogullari CU, Haktanir NT, Dereköy FS, Solak
M. Mitral valve prolapse as a new finding in branchio-otorenal syndrome. Clin
Dysmorphol 2010;19:181-184
|
– |
– |
– |
EE and IE malformation |
Johnston et al4040 Johnston DR, Whittemore K, Poe D, Robson CD, Perez-Atayde AR.
Diagnostic and surgical challenge: middle ear dermoid cyst in 12 month old with
branchio-oto-renal syndrome and multiple middle-ear congenital anomalies. Int J
Pediatr Otorhinolaryngol 2011;75:1341-1345
|
Mixed |
Moderate to severe |
– |
Cochlear hypoplasia, OC malformation, enlarged vestibular
aqueduct |
Nardi et al4848 Nardi E, Palermo A, Cusimano P,Mulè G, Cerasola G. Young woman with
branchio-oto-renal syndrome and a novel mutation in the EYA-1 gene. Clin Nephrol
2011;76:330-333
|
– |
– |
– |
Enlarged vestibular aqueduct |
Jankauskienè, Azukaitis5252 Jankauskiene A, Azukaitis K. Congenital unilateral facial nerve palsy
as an unusual presentation of BOR syndrome. Eur J Pediatr
2013;172:273-275
|
– |
– |
– |
Uncertain results of otoacoustic emission and facial nerve
paralysis at the RE |