A newly recognized autosomal dominant inherited syndrome associated with congenital conductive deafness, hyperopia, broad thumbs, broad first toes, short distal phalanges, and syndactyly is reported. The conductive loss was the result of congenital stapes ankylosis and, in two cases, was associated with ankylosis of the short process of the incus in the fossa incudis. Stapedectomy improved hearing in these patients. Fused cervical vertebrate are also an associated feature.
It is generally assumed that auditory stimulation since birth is important for the proper development of the central auditory nervous system. Whether auditory deprivation occurs in man and, therefore, whether it may be considered as a contraindication to surgery in unilateral congenital middle ear anomalies and atresias is the subject of the present study. Speech recognition during both monaural and binaural presentation was studied in patients who had successful surgery for a unilateral congenital ear anomaly. In binaural speech recognition tests, the average results of the patient group (N = 13) and a group of subjects with normal hearing proved to be comparable. The average speech recognition score using monaurally presented band-pass filtered speech was 84% +/- 8% and 77% +/- 10% for the unoperated (normal) and operated ears, respectively (statistically significant). Speech-to-noise ratios of -5.6 +/- 0.7 dB and -3.9 +/- 1.6 db were found in the normal and operated ears, respectively (statistically significant). It is concluded that, in general, the speech recognition scores of the operated ears were satisfactory, but poorer than those of the normal ears.
Isolated congenital stapes ankylosis is described in 32 operated ears from 28 patients. In 27 ears, a regular stapedectomy was performed. In the remaining 5 ears, 2 had stapes gushers, 2 had bony stapedial tendons, and 1 had an aberrant facial nerve crossing the oval window. The average individual hearing gain was 20 dB. The mean hearing gain for the 24 successful stapedectomies was 29 dB. In 24 of 32 ears (75%), an essential hearing gain of at least 15 dB Fletcher's index hearing threshold could be achieved. A Fletcher's index not exceeding 30 dB could be achieved in 19 of 32 ears (60%), in spite of several cases with a sensorineural component in the hearing loss. A review of the literature and overview of longer series with isolated congenital stapes ankylosis is presented.
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