Igawa H H, Nishizawa N, Sugihara T, Inuyama Y
Department of Plastic and Reconstructive Surgery, Hokkaido University School of Medicine, Japan.
Am J Med Genet. 2000 May 15;92(2):87-9. doi: 10.1002/(sici)1096-8628(20000515)92:2<87::aid-ajmg1>3.0.co;2-g.
Three patients, a female and two males, 28, 15, and 14 years of age, with Kabuki make-up syndrome (KMS) were studied for middle and inner ear abnormalities by using CT scanning of the petrous bones. All three patients had bilateral dysplasia of the inner ear, i.e., hypodysplasia of the cochlea, vestibule, and semicircular canals (so-called Mondini dysplasia), whereas their middle ears had no abnormalities. Audiometry demonstrated a sharp decrease in hearing of the high tone range, bilateral in one and unilateral in another, while the third patient was noncooperative. In view of these findings, it would be advisable to study each individual with KMS and hearing impairment for possible inner ear abnormalities.
对三名歌舞伎综合征（KMS）患者进行了研究，其中一名女性和两名男性，年龄分别为28岁、15岁和14岁，通过颞骨CT扫描来检查中耳和内耳异常情况。所有三名患者均有双侧内耳发育异常，即耳蜗、前庭和半规管发育不全（所谓的Mondini发育不全），而他们的中耳没有异常。听力测定显示，一名患者双侧、另一名患者单侧出现高音调范围听力急剧下降，而第三名患者不配合检查。鉴于这些发现，建议对每一名患有KMS和听力障碍的个体进行检查，以确定是否存在内耳异常情况。
