title: Middle ear abnormalities in Van Maldergem syndrome.
abstract: Van Maldergem syndrome (VMS) is a very rare syndrome that was first described in 1992. The main features of this syndrome comprise intellectual disability, blepharo-naso-facial malformation, and hand anomalies. Almost all nine described patients have been shown to be affected by conductive hearing impairment attributed to microtia, and atresia of the outer ear canal. Here, we present a VMS patient with congenital malformations of the middle ear as the main reason for severe conductive bilateral hearing impairment. To our knowledge, this is the first report to describe middle ear abnormalities in VMS. These malformations were seen on high resolution Computed Tomography scanning and during an exploratory tympanotomy. Due to the severity of the middle ear abnormalities and the risk for facial nerve damage, the patient was not offered an ossicular chain reconstruction but a bone conduction device after this exploratory tympanotomy. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Department of Otorhinolaryngology and Head and Neck Surgery, University Medical Center Utrecht, Utrecht, The Netherlands.|Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Emmy
authors.initials: E
authors.lastname: Verheij
authors.affiliation: Department of Otorhinolaryngology and Head and Neck Surgery, University Medical Center Utrecht, Utrecht, The Netherlands.|Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Henricus G X M
authors.initials: HG
authors.lastname: Thomeer
authors.affiliation: Department of Radiology, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Frank A
authors.initials: FA
authors.lastname: Pameijer
authors.affiliation: Department of Otorhinolaryngology and Head and Neck Surgery, University Medical Center Utrecht, Utrecht, The Netherlands.|Department of Otorhinolaryngology and Head and Neck Surgery, University Hospital Antwerp, Antwerp, Belgium.
authors.forename: Vedat
authors.initials: V
authors.lastname: Topsakal
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D001299:Audiometry; D019465:Craniofacial Abnormalities / Q000175:diagnosis*; D004432:Ear, Middle / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005532:Foot Deformities, Congenital / Q000175:diagnosis*; D006228:Hand Deformities, Congenital / Q000175:diagnosis*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis*; D007593:Joint Instability / Q000175:diagnosis*; D008297:Male; D010641:Phenotype; D014057:Tomography, X-Ray Computed
keywords: Van Maldergem syndrome; bone anchored hearing device; conductive hearing loss; congenital microtia; middle ear malformation