Bilateral conductive hearing impairment with hyperostosis of the temporal bone: A new finding in Robinow syndrome

Archives of Otolaryngology - Head and Neck Surgery

Volumn 138, Issue 3, 2012, Pages 309-312

  Eijkenboom, Dion F ^a,c   Verbist, Berit M ^a,d   Cremers, Cor W R J ^a,b   Kunst, Henricus P M ^a,b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY   (Netherlands)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; BILATERAL CONDUCTIVE HEARING IMPAIRMENT; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; CONDUCTION DEAFNESS; FEMALE; HUMAN; HYPEROSTOSIS; MYRINGOTOMY; OTITIS MEDIA; OTOSCOPY; TEMPORAL BONE;

ACROCEPHALOSYNDACTYLIA; ADOLESCENT; AUDIOMETRY; FEMALE; HEARING LOSS, CONDUCTIVE; HUMANS; HYPEROSTOSIS; OTOSCOPY; TEMPORAL BONE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84858731440     PISSN: 08864470     EISSN: 1538361X     Source Type: Journal    
DOI: 10.1001/archoto.2011.1459     Document Type: Article

References (12)

1. Robinow M, Silverman FN, Smith HD. A newly recognized dwarfing syndrome.AmJ Dis Child. 1969; 117(6):645-651.
2. Mazzeu JF, Pardono E, Vianna-Morgante AM, et al. Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. Am J Med Genet A. 2007;143(4):320-325. (Pubitemid 46214192)
3. Patton MA, Afzal AR. Robinow syndrome. J Med Genet. 2002;39(5):305-310. (Pubitemid 34526348)
4. Venditti CP, Farmer J, Russell KL, et al. Omodysplasia: an affected mother and son. Am J Med Genet. 2002;111(2):169-177. (Pubitemid 34809499)
5. Afzal AR, Rajab A, Fenske CD, et al. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nat Genet. 2000;25(4):419-422. (Pubitemid 32983434)
6. van Bokhoven H, Celli J, Kayserili H, et al. Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nat Genet. 2000;25(4):423-426. (Pubitemid 32983435)
7. Person AD, Beiraghi S, Sieben CM, et al. WNT5A mutations in patients with autosomal dominant Robinow syndrome. Dev Dyn. 2010;239(1):327- 337.
8. Schwabe GC, Trepczik B, Süring K, et al. Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome. Dev Dyn. 2004;229(2):400-410. (Pubitemid 38140480)
9. Suzuki M, Kanebayashi H, Kawano A, et al. Involvement of the incudostapedial joint anomaly in conductive deafness. Acta Otolaryngol. 2008; 128(5):515-519. (Pubitemid 351550960)
10. Teunissen EB, Cremers WR. Classification of congenitalmiddle ear anomalies: report on 144 ears. Ann Otol Rhinol Laryngol. 1993;102(8, pt 1): 606-612. (Pubitemid 23236708)
11. Kelly TE, Benson R, Temtamy S, Plotnick L, Levin S. The Robinow syndrome: an isolated case with a detailed study of the phenotype. Am J Dis Child. 1975;129(3):383-386. (Pubitemid 8001075)
12. Samoud A, Menif K, Boulaares M, Ben Dridi MF. Robinow's syndrome associated with deafness [in French]. Arch Fr Pediatr. 1993;50(10):897-899.