Henricus G. X. M. Thomeer

Objectives To describe the audiometric results in a consecutive series of patients with congenital ossicular aplasia (Class 4a) or dysplasia of the oval and/or round window (Class 4b), which might include a possible anomalous course of the facial nerve. Study Design Retrospective chart study. Setting Tertiary referral center. Patients A tertiary referral center study with a total of 14 patients with congenital minor ear anomalies as part of a consecutive series (n = 89) who underwent exploratory tympanotomies (15 ears). Main Outcome Measures Audiometric results. Results In 8 of 15 ears, ossicular reconstruction was attempted. In the short term (1 mo), there was a serviceable hearing outcome (air-bone gap closure to within 25 dB) in 4 ears. However, the long-term results showed deterioration because of an increased air-bone gap in all but 1 ear. No facial nerve lesion was observed postoperatively. Conclusion Congenital dysplasia or aplasia of the oval and/or round window is an uncommon congenital minor ear anomaly. Classical microsurgical opportunities are rare in this group of anomalies. Newer options for hearing rehabilitation, such as the osseointegrated passive bone conduction devices, have become viable alternatives for conventional air conduction hearing devices. In the near future, upcoming active bone conduction devices might become the most preferred surgical option. In cases in which the facial nerve is only partially overlying the oval window, a type of malleostapedotomy procedure might result in a serviceable postoperative hearing level.

Research from JAMA Otolaryngology–Head & Neck Surgery — Congenital Stapes Ankylosis Associated With Another Ossicular Chain Anomaly — Surgical Results in 30 Ears

To report on 2 families with proximal symphalangism syndrome and 2 new NOG gene mutations and to report on the outcomes of exploratory tympanotomy. Retrospective chart study. Tertiary referral center. A total of 6 patients, one of which underwent an exploratory tympanotomy, were examined from 2 families. Exploratory tympanotomy in 1 patient. Medical and otologic histories and postoperative hearing outcomes. In the patient that was operated upon, the preoperative air conduction hearing threshold of 55 dB was reduced to 41 dB with a residual air bone gap of 21 dB. Furthermore, deoxyribonucleic acid analysis revealed 2 different mutations: a heterozygous nonsense mutation in the NOG gene, c.391C>T (p.Gln131X), and a frameshift mutation in the NOG gene (NOG, c.304del (p.Ala102fs)). NOG gene mutations, which lead to aberrant noggin protein function, give rise to a large spectrum of clinical findings and different symphalangism syndromes. These syndromes are all allelic disorders within the Noggin phenotype spectrum. We report on 2 new mutations that are supplementary to those previously described in the literature.

We describe the audiometric results after stapes surgery in a consecutive series of patients with isolated stapes footplate ankylosis. We performed a retrospective analysis of charts from 1986 to 2001 in a tertiary referral center, focusing on audiometric results. A total of 28 patients (39 ears) underwent stapedotomy or stapedectomy, and 5 patients (5 ears) had a syndromal diagnosis. Overall, we observed a mean gain in air conduction threshold of 21 dB (from 46 to 25 dB) and a mean postoperative air-bone gap of 14 dB (mean preoperative air bone gap, 36 dB). The postoperative air-bone gap was 10 dB or less in 46% of cases, in agreement with results reported in the literature. Moreover, the audiometric results remained stable. In the group of ears with a syndrome, the mean gain in air conduction threshold was only 12 dB (range, -13.8 to 32.5 dB), which was a worse outcome than that in the nonsyndromic ears. Surgery for isolated congenital stapes footplate ankylosis provides satisfactory audiometric outcomes. The postoperative air-bone gap was 10 dB or less in 18 of the 39 ears (46%) and 20 dB or less in 29 of the 39 ears (74%). Most ears had some sensorineural impairment (10 to 20 dB), which influenced the final hearing level after surgery. Preoperative assessment is mandatory to search for syndromal diagnoses, which might be important for patient counseling and prognosis.