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Middle ear abnormalities in Van Maldergem syndrome.
Am J Med Genet A. 2017 Jan; 173(1):239-244.AJ

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+Show Affiliations

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.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.Department of Radiology, University Medical Center Utrecht, Utrecht, The Netherlands.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.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

27739185

Citation

Verheij, Emmy, et al. "Middle Ear Abnormalities in Van Maldergem Syndrome." American Journal of Medical Genetics. Part A, vol. 173, no. 1, 2017, pp. 239-244.
Verheij E, Thomeer HG, Pameijer FA, et al. Middle ear abnormalities in Van Maldergem syndrome. Am J Med Genet A. 2017;173(1):239-244.
Verheij, E., Thomeer, H. G., Pameijer, F. A., & Topsakal, V. (2017). Middle ear abnormalities in Van Maldergem syndrome. American Journal of Medical Genetics. Part A, 173(1), 239-244. https://doi.org/10.1002/ajmg.a.37990
Verheij E, et al. Middle Ear Abnormalities in Van Maldergem Syndrome. Am J Med Genet A. 2017;173(1):239-244. PubMed PMID: 27739185.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Middle ear abnormalities in Van Maldergem syndrome. AU - Verheij,Emmy, AU - Thomeer,Henricus G X M, AU - Pameijer,Frank A, AU - Topsakal,Vedat, Y1 - 2016/10/14/ PY - 2016/06/06/received PY - 2016/09/12/accepted PY - 2016/10/16/pubmed PY - 2017/10/20/medline PY - 2016/10/15/entrez KW - Van Maldergem syndrome KW - bone anchored hearing device KW - conductive hearing loss KW - congenital microtia KW - middle ear malformation SP - 239 EP - 244 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 173 IS - 1 N2 - 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. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/27739185/Middle_ear_abnormalities_in_Van_Maldergem_syndrome_ L2 - https://doi.org/10.1002/ajmg.a.37990 DB - PRIME DP - Unbound Medicine ER -