Wright C G, Brown O E, Meyerhoff W L, Rutledge J C
Ann Otol Rhinol Laryngol. 1986 Sep-Oct;95(5 Pt 1):480-6. doi: 10.1177/000348948609500509.
CHARGE association is a recently described cluster of congenital defects including ocular coloboma, heart disease, choanal atresia, retarded development and/or CNS abnormalities, genital hypoplasia, and ear anomalies. Although congenital hearing loss has been reported in CHARGE association, no information regarding the underlying temporal bone disease is available in the literature to date. The authors evaluated four patients with multiple anomalies consistent with CHARGE syndrome. Two surviving patients have bilateral severe hearing loss on auditory brain stem response testing. Two patients did not survive, and their temporal bones were obtained at autopsy for histologic examination. All four temporal bones showed severe middle ear defects including ossicular deformities, absence of the stapedius muscle, absence of the oval window, aberrant course of the facial nerve, and dehiscence of the facial nerve canal. In the more severely affected case, a Mondini-type malformation of the cochlea was present, together with multiple anomalies of the vestibular apparatus. Vestibular defects also occurred in the other case; however, the cochleae were found to be normally developed.
CHARGE综合征是最近描述的一组先天性缺陷，包括眼裂、心脏病、后鼻孔闭锁、发育迟缓及/或中枢神经系统异常、生殖器发育不全和耳部异常。虽然CHARGE综合征中已有先天性听力损失的报道，但迄今为止，文献中尚无关于潜在颞骨疾病的信息。作者评估了4例有与CHARGE综合征相符的多种异常的患者。2例存活患者经听性脑干反应测试显示双侧严重听力损失。2例患者未能存活，其颞骨在尸检时获取用于组织学检查。所有4例颞骨均显示严重的中耳缺陷，包括听骨畸形、镫骨肌缺如、卵圆窗缺如、面神经走行异常及面神经管裂开。在受累更严重的病例中，存在Mondini型耳蜗畸形以及前庭器的多种异常。另一例也出现了前庭缺陷；然而，耳蜗发育正常。
