Graham G E, Allanson J E
Department of Medical Genetics, Alberta Children's Hospital and University of Calgary, Alberta, Canada.
Am J Med Genet. 1999 Sep 3;86(1):20-6. doi: 10.1002/(sici)1096-8628(19990903)86:1<20::aid-ajmg5>3.0.co;2-h.
We describe a 14-month-old girl with unilateral congenital cholesteatoma and anomalies of the facial nerve in addition to the more common branchial arch, otic, and renal malformations comprising the branchio-oto-renal (BOR) syndrome. Her mother also has the BOR syndrome and unilateral duplication of the facial nerve. This is the first study of a BOR patient with congenital cholesteatoma and the second family in which cholesteatoma and anomalies of the facial nerve are described in patients with the BO/BOR syndrome. We review the congenital cholesteatoma literature and discuss hypotheses for the pathogenesis of this entity in light of this new report.
我们描述了一名14个月大的女孩，她除了患有较为常见的包括鳃弓、耳部和肾脏畸形的鳃-耳-肾（BOR）综合征外，还患有单侧先天性胆脂瘤和面神经异常。她的母亲也患有BOR综合征以及面神经单侧重复。这是对一名患有先天性胆脂瘤的BOR患者的首次研究，也是第二个报道胆脂瘤和面神经异常的BO/BOR综合征患者家系。我们回顾了先天性胆脂瘤的文献，并根据这一新报告讨论了该疾病发病机制的假说。
