Brachio-Oto-Renal Syndrome: CT Imaging and Intraoperative Diagnostic Findings.
Brachio-Oto-Renal Syndrome: CT Imaging and Intraoperative Diagnostic Findings.
复制标题
臂耳肾综合征：CT 成像和术中诊断结果。
DOI：
10.1097/mao.0000000000000409
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发表时间：
2015
期刊：
影响因子：
--
通讯作者：
Crane,BenjaminT
中科院分区：
文献类型：
--
作者：
O'Brien,BrendanM;Meyers,StevenP;Crane,BenjaminT
Branchio-oto-renal syndrome (BOR) is an autosomal dominant mutation of the EYA1 and the more recently discovered the SIX1 gene (1). The phenotype and syndrome were comprehensively described by Melnick in 1975 to include hearing loss, auricular malformations, branchial arch remnants, and renal anomalies (2). The diagnosis of BOR is made using major and minor criteria as defined by Chang et al.(3). However, 60% of patients who meet phenotypic criteria do not have an identifiable mutation in the EYA1 gene, leading to recent interest in the EYA-SIX regulatory system (1). The most common manifestations include hearing loss (98.5%), preauricular pits (83.6%), branchial anomalies (68.5%), renal anomalies (38.2%), and external ear abnormalities (31.5%). In terms of the imaging characteristics, the most sensitive modality remains CT of the temporal bones. The most commonly reported anomalies on temporal bone imaging include but are not limited to the following: 1) hypoplastic apical turn of the cochlea, 2) facial nerve deviated to the medial side of the cochlea, 3) funnel-shaped internal auditory canal, and 4) patulous Eustachian tube (4).The spectrum of hearing loss in BOR is variable but most commonly presents with mixed hearing loss (50%), pure sensorineural hearing loss (25%), and pure conductive hearing loss (25%)(5). The conductive component of the hearing loss is most often the result of ossicular chain abnormalities. A 42-year-old man previously diagnosed with BOR using clinical criteria presented with a conductive hearing
