Clinical Presentation and the Presence of Hearing Impairment in Branchio-oculo-facial Syndrome: A New Mutation in the TFAP2A Gene

被引：7

作者：

Thomeer, Henricus G. X. M. ^{[1
]}

Crins, Tom T. H. ^{[1
]}

Kamsteeg, Erik J. ^{[2
]}

Buijsman, Wendy ^{[2
]}

Cruysberg, Johannes R. M. ^{[3
]}

Knoers, Nine V. A. M. ^{[2
]}

Cremers, Cor W. R. J. ^{[1
]}

机构：

[1] Radboud Univ Nijmegen, Donders Ctr Brain Cognit & Behav, Dept Otorhinolaryngol, Ctr Clin Neurosci,Med Ctr, NL-6500 HB Nijmegen, Netherlands

[2] Radboud Univ Nijmegen, Med Ctr, Ctr Clin Neurosci, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

[3] Radboud Univ Nijmegen, Med Ctr, Ctr Clin Neurosci, Dept Ophthalmol, NL-6500 HB Nijmegen, Netherlands

来源：

ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY | 2010年 / 119卷 / 12期

关键词：

BAHA; bone-anchored hearing aid; branchio-oculo-facial syndrome; congenital conductive hearing loss; congenital ear canal atresia; microphthalmia; nasolacrimal duct; TFAP2A gene; DISTINCT ENTITIES; FACIAL-SYNDROME; EAR; MANIFESTATIONS; EXCLUSION; ATRESIA;

D O I：

10.1177/000348941011901204

中图分类号：

R76 [耳鼻咽喉科学];

学科分类号：

100213 ;

摘要：

We report on the clinical presentation of branchio-oculo-facial (BOF) syndrome in 2 patients with mutations in the TFAP2A gene (OMIM 107580). This TFAP2A gene was recently shown to be involved in the causation of BOF syndrome. An overview of the literature on BOF syndrome is Oven based on clinical reports written in the period during which mutation analysis was not yet available for BOF syndrome. We also give descriptions of the mutations in the TFAP2A gene in our 2 new patients with BOF syndrome. Congenital conductive hearing impairments are described, including hearing rehabilitation and the results of ear surgery.

引用

页码：806 / 814

页数：9

共 40 条

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