耳小骨奇形を伴った歌舞伎メーキャップ症候群の1症例

Kabuki make-up syndrome with ossicular anomaly：a case report

はじめに

　歌舞伎メーキャップ症候群は1981年，Niikawaら^1）およびKurokiら^2）がそれぞれ北海道および関東地方の症例を報告し，その顔貌が歌舞伎役者の隈取に似ていることから名づけられた。精神発達遅滞，成長障害，多発性奇形および独特の顔貌を伴っており，その発生率は3～8万人に1人と報告されている^3,4）。今回，われわれは難聴を主訴とし耳小骨奇形を伴った歌舞伎メーキャップ症候群の1例を経験したので報告する。

　We present a case of kabuki make-up syndrome with ossicular anomaly. The patient had a characteristic face and mental retardation, postnatal growth deficiency, kidney malformation, hip anomaly and hearing loss. A pure tone audiometry showed the bilateral mixed hearing loss. The computed tomography of the temporal bone revealed atrophic change of the stapes. The ossicular anomaly was presumed from the audiometry and computed tomography of the temporal bone. Tympanoplasty was performed under general anesthesia. The joint between the incus and malleus was intact. However, the stapes foot was atrophic. We inserted a the columella between the foot plate of stapes and the long process of malleus. The hearing threshold was not changed and preserved 5 years after the surgery. The pathogenesis of the mixed hearing loss was presumed to be involved by not only atrophic change of the stapes but also fixation of the stapes foot plate like otosclerosis or malleus-incus joint. The patient has been under observation as an outpatient.