Thomeer Henricus G X M, Crins Tom T H, Kamsteeg Erik J, Buijsman Wendy, Cruysberg Johannes R M, Knoers Nine V A M, Cremers Cor W R J
Department of Otorhinolaryngology, Center for Clinical Neuroscience, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.
Ann Otol Rhinol Laryngol. 2010 Dec;119(12):806-14. doi: 10.1177/000348941011901204.
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 given 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.
我们报告了2例TFAP2A基因（OMIM 107580）突变的鳃-眼-面（BOF）综合征患者的临床表现。最近研究表明，该TFAP2A基因与BOF综合征的病因有关。基于在BOF综合征尚未开展突变分析期间撰写的临床报告，对BOF综合征的文献进行了综述。我们还描述了2例新的BOF综合征患者的TFAP2A基因突变情况。文中描述了先天性传导性听力障碍，包括听力康复和耳部手术结果。
