Osteogenesis imperfecta (OI) is a rare connective tissue disease caused by a defect in collagen structure. Hearing loss is a characteristic feature of OI. It typically presents with conductive hearing loss initially, followed by a superimposed sensorineural component later in life. The most common conductive problem in OI is a stapes defect. The authors undertook a retrospective study of hearing results and characteristics of OI patients treated for hearing loss by stapedotomy at a tertiary referral centre. Thirteen adult patients (21 ears), undergoing their initial primary stapedotomy at the tertiary centre, were identified over 13 years. The most frequently-reported intraoperative findings were stapes footplate immobilisation, stapes branch fractures, stapes footplate obliteration, thickened and brittle stapes footplate, and bleeding from the thickened lining of the tympanic cavity. Due to the challenging nature of surgery, there were 12 reoperations. The mean air-bone gap (ABG) improved from 32.2dB to 12.26dB (p<0.001) in the short term (within 12 months after surgery). ABG closure rates were: 14.3% (up to 10dB) and 47.6% (more than 10dB and less or equal than 20dB). Although the ABG closure did not significantly change at longterm (more than 12 months postop), the bone conduction (BC) thresholds and BC improvement deteriorated significantly (p<0.05). This study shows results consistent with existing literature that ABG closure results of OI patients are typically worse than the outcomes of stapedotomies in otosclerosis, which are often quoted at 90-95%. The difference is probably due to the various anatomical conditions in OI patients, as described above, making surgery very challenging. In addition to this, superimposed sensorineural hearing loss in OI patients later in life should be discussed with the patient so that they are able to make a fully-informed decision prior to embarking upon surgery.

Results of stapedotomy in otosurgical treatment of adult patients with osteogenesis imperfecta.
Skarzynski H, Kordowska K, Skarzynski PH, Gos E.
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Praneta Kulloo

Lewisham and Greenwich NHS Trust, UK.

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