Inner ear anomalies are frequent but nonobligatory features of the branchio-oto-renal syndrome

Archives of Otolaryngology - Head and Neck Surgery

Volumn 128, Issue 9, 2002, Pages 1033-1038

  Kemperman, Martijn H ^a   Koch, Sacha M P ^a   Joosten, Frank B M ^b   Kumar, Shrawan ^c   Huygen, Patrick L M ^a   Cremers, Cor W R J ^a  

^a Department of Otorhinolaryngology ^*  (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c BOYS TOWN NATIONAL RESEARCH HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BRANCHIOOTORENAL SYNDROME; CLINICAL ARTICLE; CLINICAL FEATURE; COCHLEA; CONTROLLED STUDY; DISEASE ASSOCIATION; ENDOLYMPHATIC SAC; FAMILY HISTORY; FEMALE; FOLLOW UP; HEREDITY; HUMAN; HYPOPLASIA; INNER EAR; INNER EAR DISEASE; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; TEMPORAL BONE; VESTIBULE AQUEDUCT;

EID: 0036712351     PISSN: 08864470     EISSN: None     Source Type: Journal    
DOI: 10.1001/archotol.128.9.1033     Document Type: Article

References (25)

1. Familial branchio-oto-renal dysplasia: A new addition to the branchial arch syndromes
2. Genetic aspects of the BOR syndrome branchial fistulas, ear pits, hearing loss, and renal anomalies
3. The earpits-deafness syndrome: Clinical and genetic aspects
4. Phenotypic manifestations of branchio-oto-renal syndrome
5. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family
6. Branchio-oto-renal syndrome: Identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing
7. Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome
8. Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: Clinical and genetic implications
9. Otological aspects of the earpitdeafness syndrome
10. Renal disorders in the branchio-oto-renal syndrome
11. Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss
12. Systematic errors in bone conduction audiometry
13. Deafness and hypacusis combined with branchiogenic and sometimes renal congenital abnormalities
14. Congenital pre-auticular fistula communicating with the tympanic cavity
15. Neo-oval window technique and myringochorda-vestibulopexy in the BOR syndrome
16. Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear hypoplasia in branchio-oto-renal syndrome
17. Narrowing the genetic interval and yeast artificial chromosome map in the branchio-oto-renal region on chromosome 8q
18. MRI of enlarged endolymphatic sacs in the large vestibular aqueduct syndrome
19. Advanced techniques in magnetic resonance imaging in the evaluation of the large endolymphatic duct and sac syndrome
20. The impact of a syndromal diagnosis on surgery for congenital minor ear anomalies
21. The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the branchio-oto-renal syndrome a family study
22. Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred syndrome
23. A family affected by branchio-oto syndrome with EYA1 mutations
24. Nonsyndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations