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In DFNA8/12, an autosomal dominantly inherited type of nonsyndromic hearing impairment, the TECTA gene mutation causes a defect in the structure of the tectorial membrane in the inner ear. Because DFNA8/12 affects the tectorial membrane, patients with DFNA8/12 may show specific audiometric characteristics. In this study, five selected members of a Dutch DFNA8/12 family with a TECTA sensorineural hearing...
A novel TECTA mutation, p.R1890C, was found in a Dutch family with nonsyndromic autosomal dominant sensorineural hearing impairment. In early life, presumably congenital, hearing impairment occurred in the midfrequency range, amounting to about 40 dB at 1 kHz. Speech recognition was good with all phoneme recognition scores exceeding 90%. An intact horizontal vestibuloocular reflex was found in four...
Objectives: To review our 13-year experience with prenatally detected hypoplastic left heart syndrome (HLHS) of which management remains controversial. Material and Methods: Retrospective study of the management and outcome in all cases of HLHS diagnosed prenatally in a tertiary referral center for pediatric cardiology and cardiac surgery between January 1988 and July 2001. Results: The diagnosis...
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