Otopathology in osteogenesis imperfecta

Otology and Neurotology

Volumn 33, Issue 9, 2012, Pages 1562-1566

  Santos, Felipe ^a   McCall, Andrew A ^b   Chien, Wade ^c   Merchant, Saumil ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF PITTSBURGH MEDICAL CENTER   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Hearing loss; Histopathology; Osteogenesis imperfect; Otosclerosis

Indexed keywords

ADULT; ARTICLE; ATROPHY; AUDITORY OSSICLE; CASE REPORT; CHILD; COCHLEA; COCHLEA FENESTRA; CORTI ORGAN; FEMALE; FRACTURE; HEARING IMPAIRMENT; HUMAN; INFANT; MALE; NEWBORN; OSTEOGENESIS IMPERFECTA; OTOSCLEROSIS; PATHOLOGY; PRESCHOOL CHILD; REGISTER; SPIRAL GANGLION; STAPES SURGERY; TEMPORAL BONE; VESTIBULE;

ADULT; ATROPHY; CHILD; CHILD, PRESCHOOL; COCHLEA; EAR OSSICLES; FEMALE; FRACTURES, BONE; HEARING LOSS; HUMANS; INFANT; INFANT, NEWBORN; MALE; ORGAN OF CORTI; OSTEOGENESIS IMPERFECTA; OTOSCLEROSIS; OVAL WINDOW, EAR; REGISTRIES; ROUND WINDOW, EAR; SACCULE AND UTRICLE; SPIRAL GANGLION; STAPES SURGERY; TEMPORAL BONE;

EID: 84870319455     PISSN: 15317129     EISSN: 15374505     Source Type: Journal    
DOI: 10.1097/MAO.0b013e31826bf19b     Document Type: Article

References (13)

1. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979;16:101-16. (Pubitemid 9164903)
2. Forlino A, Cabral WA, Barnes AM, Marini JC. New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol 2011;7:540-57.
3. Hartikka H, Kuurila K, Korkko J, et al. Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. Hum Mutat 2004;24:147-54. (Pubitemid 39006594)
4. Swinnen FK, Coucke PJ, De Paepe AM, et al. Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype. Orphanet J Rare Dis 2011;6:88.
5. Kuurila K, Kaitila I, Johansson R, Grenman R. Hearing loss in Finnish adults with osteogenesis imperfecta: a nationwide survey. Ann Otol Rhinol Laryngol 2002;111:939-46. (Pubitemid 35155071)
6. Pedersen U: Hearing loss in patients with osteogenesis imperfecta. A clinical and audiological study of 201 patients. Scand Audiol 1984; 13:67-74. (Pubitemid 14123814)
7. Bretlau P, Jorgensen MB. Otosclerosis and osteogenesis imperfecta. Arch Otolaryngol 1969;90:4-10.
8. Sando I, Myers D, Harada T, Hinojosa R, Myers EN. Osteogenesis imperfecta tarda and otosclerosis. A temporal bone histopathology report. Ann Otol Rhinol Laryngol 1981;90(3 Pt 1):199-203.
9. Nager GT. Osteogenesis imperfecta of the temporal bone and its relation to otosclerosis. Ann Otol Rhinol Laryngol 1988;97:585-93. (Pubitemid 19021493)
10. Berger G, Hawke M, Johnson A, Proops D. Histopathology of the temporal bone in osteogenesis imperfecta congenita: a report of 5 cases. Laryngoscope 1985;95:193-9. (Pubitemid 15169274)
11. Zajtchuk JT, Lindsay JR. Osteogenesis imperfecta congenita and tarda: a temporal bone report. Ann Otol Rhinol Laryngol 1975;84: 350-8.
12. Parahy C, Linthicum FH Jr. Otosclerosis: relationship of spiral ligament hyalinization to sensorineural hearing loss. Laryngoscope 1983;93:717-20. (Pubitemid 13101617)
13. Khetarpal U, Morton CC. COL1A2 and COL2A1 expression in temporal bone of lethal osteogenesis imperfecta. Arch Otolaryngol Head Neck Surg 1993;119:1305-14. (Pubitemid 24000540)