Middle ear abnormalities in Van Maldergem syndrome.

Autor: Verheij E; 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., Thomeer HG; 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., Pameijer FA; Department of Radiology, University Medical Center Utrecht, Utrecht, The Netherlands., Topsakal V; 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.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2017 Jan; Vol. 173 (1), pp. 239-244. Date of Electronic Publication: 2016 Oct 14.
DOI: 10.1002/ajmg.a.37990
Abstrakt: 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.
(© 2016 Wiley Periodicals, Inc.)
Databáze: MEDLINE
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