Article
Middle ear abnormalities in Van Maldergem syndrome.
American journal of medical genetics. Part A - 1 Jan 2017
Verheij Emmy, Thomeer Henricus G X M, Pameijer Frank A, Topsakal Vedat
Abstract excerpt
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...
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