Literature DB >> 8133157

The deafness, pre-auricular sinus, external ear anomaly and commissural lip pits syndrome--otological, vestibular and radiological findings.

H A Marres1, C W Cremers, P L Huygen, F B Joosten.   

Abstract

Commissural lip pits, pinna dysplasia, pre-auricular sinus and hearing loss constitute a recently described autosomal dominant branchial arch syndrome. In a large family, eight out of the 74 members were also affected by conductive hearing loss. No inner ear abnormalities could be demonstrated on the CT scans. In three patients (four ears) out of four patients (six ears), exploratory tympanotomy revealed serious ossicular chain anomalies. In one ear, round window aplasia was also present. Long-term hearing improvement could only be achieved in one ear.

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Year:  1994        PMID: 8133157     DOI: 10.1017/s002221510012571x

Source DB:  PubMed          Journal:  J Laryngol Otol        ISSN: 0022-2151            Impact factor:   1.469


  1 in total

1.  Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications.

Authors:  S Kumar; K Deffenbacher; H A Marres; C W Cremers; W J Kimberling
Journal:  Am J Hum Genet       Date:  2000-04-03       Impact factor: 11.025

  1 in total

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