Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta.
OBJECTIVE
To provide data on the outcome of stapes surgery in patients with osteogenesis imperfecta (OI). The audiometric results of 15 ears (12 patients), in which a stapes operation was performed, are presented and compared with results from literature.


METHODS
Retrospective study.


METHODS
In 12 patients with genetically confirmed OI, intraoperative findings and audiometric evaluations were recorded.


RESULTS
In all patients the genetic mutation was located in the COL1A1 gene. Surgical findings in OI may be particular like mobile, atrophic stapes crura combined with a fixation of the stapes footplate, which may be thickened, and a hypervascularized or thickened middle-ear mucosa. Outcome for hearing in 13 primary surgered ears was good because at short-term follow-up the air-bone gap was reduced in all cases. These results were maintained in the long-term, with exception of one ear, in which progression of the sensorineural component occurred shortly after the operation. Although initial success was noted in two ears with revision surgery, in the long term this was only maintained in one of them.


CONCLUSIONS
In general, stapes surgery is successful in resolving the conductive hearing loss in OI patients, even in the long term. Hearing loss in OI is mostly of the mixed type, and the sensorineural component is reported to be progressive. Stapedotomy, by improving the hearing level, may facilitate the rehabilitation with a hearing aid. Because the identified mutation could be located in the COL1A1 gene in all patients, conductive hearing loss in OI caused by stapes fixation is possibly linked to a mutation in this gene. Laryngoscope, 2009.
Swinnen
Freya K R
FK
ENT Department, FC Donders Institute for Neurosciences, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands. Freya.Swinnen@UGent
De Leenheer
Els M R
EM
Coucke
Paul J
PJ
Cremers
Cor W R J
CW
Dhooge
Ingeborg J M
IJ
D000158:Acoustic Impedance Tests; D000293:Adolescent; D000328:Adult; D001301:Audiometry, Pure-Tone; D001309:Auditory Threshold / Q000502:physiology*; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006314:Hearing Loss, Conductive / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009998:Ossicular Prosthesis; D010013:Osteogenesis Imperfecta / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D010641:Phenotype; D011183:Postoperative Complications / Q000601:surgery; D012022:Reflex, Acoustic; D012086:Reoperation; D013201:Stapes Surgery; D055815:Young Adult
D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain