歌舞伎メーキャップ症候群と粘膜下口蓋裂

抄録

Kabuki make-up syndrome reported by Niikawa and Kuroki in 1981 is a malformation syndrome characterized by specific craniofacial malformations such as long palpebral fissures, large ears and depressed nasal tip associated with postnatal dwarfism and mental retardation. In the present paper, we report two cases of Kabuki make-up syndrome accompanied by submucosal cleft palate and chalasia. One was a 5-year-old boy with submucosal cleft palate, chalasia, coarctation of the aorta, urinary tract anomaly and diabetes insipidus. Palatoplasty was performed by the push back method. Chalasia is improving as he grows. The other was a 7-month-old boy accompanied with submucosal cleft palate, chalasia, micrognathia, ventricular septal defect, and inguinal hernia.
Kabuki make-up syndrome is often accompanied by otitis media, high arched palate, depressed nasal tip, cleft palate, etc. Cleft palate is present in 41% of children with this syndrome. Otolaryngologists need to keep this syndrome in mind when they treat patients with cleft palate.