@entity2169 and @entity393 in XXXX .

@entity1 @entity2198 @entity717 @entity9702 @entity2346 @entity984 @entity25281 @entity1274 @entity29740 @entity10242 @entity2169 @entity393 @entity25941 @entity29343 @entity12697
OBJECTIVE: This is the first cohort in which @entity393 and @entity2169 in @entity12697 are described extensively. METHODS: Retrospective analysis of the otorhinolaryngological and clinical genetic data from 97 @entity12697 ( @entity12697 ) @entity1 . Forty-four @entity12697 @entity1 were seen by an otorhinolaryngologist for the analysis of @entity393 . In our cohort 80 of the 97 @entity1 were genetically tested. In 71 of these mutations were found: in 48 @entity1 a mutation in @entity9702 , in 10 @entity1 in @entity25941 , in 5 @entity1 in @entity25281 , in 5 @entity1 in @entity10242 , in 1 @entity1 in @entity29343 , in 1 @entity1 in @entity984 and in 1 @entity1 in @entity29740 . RESULTS: @entity2169 were reported in 75 @entity12697 @entity1 (77%). In 69 @entity1 the ears were low-set, 28 @entity1 had @entity717 , 14 @entity1 showed protruding ears and 18 had thickened helices. Hearing impairment was detected in 34 @entity12697 @entity1 . Nine @entity1 had @entity1274 , two a permanent conductive @entity393 , two other @entity1 had mixed @entity393 and 20 @entity1 had conductive @entity393 in the past, caused by @entity2346 media with effusion. Their temporary conductive @entity393 resolved between the ages of 2 and 18 years. @entity1274 varied between mild @entity2198 and profound (uni- and bilateral) @entity393 and was progressive in three @entity1 . Four @entity12697 @entity1 received cochlear implants for their severe @entity1274 . The cohort is small for genotype-phenotype correlations, but @entity1274 , especially the bilateral severe @entity393 , was only seen in @entity1 with a @entity9702 mutation. CONCLUSION: @entity12697 is characterized by dysmorphic @entity2169 and both @entity1274 . Audiological examinations are recommended in all @entity1 with @entity12697 .
