구강내 이상소견과 언어 장애를 보이는 Kabuki 증후군환자의 증례보고

• Published in: Journal of the Korean Association of Oral and Maxillofacial Surgeons Vol. 33; no. 6; pp. 681 - 683
• Main Authors: 이종석(Jong-Seok Lee), 고승오(Seung-O Ko), 임대호(Dae-Ho Leem), 백진아(Jin-A Baek), 신효근(Hyo-Keun Shin)
• Format: Journal Article
• Language: Korean
• Published: 대한구강악안면외과학회 30.12.2007; Korean Association Of Oral And Maxillofacial Surgeons
• Subjects: 치의학; Kabuki syndrome; Niikawa
• ISSN: 2234-7550; 2234-5930

Kabuki (Niikawa-Kuroki) syndrome was first reported by Niikawa et al(1981). The faces of the patients are similar to the make-up of traditional Japanese Kabuki actors: long palpebral fissures, an ectropium of the lateral third of the eyelids,and arching eyebrows with sparse lateral halves. Craniofacial findings include a depressed nasal tip, short nasal septum, large and prominent ears, and micrognathia. Other main features area mild to moderate mental deficiency, short stature,skeletal and dermatoglyphic abnormalities,including prominent finger tip pads. Oral anomalies are common in KS(over 60%) and include abnormal dentition, widely spaced teeth ,cleft palate or lip, high vault of palate, hypodontia, conical incisors, screw driver-shaped incisors and ectopic upper 6-year molars.The increased occurrence of cleft lip and palate or the development of a high vault of palate has been described by a number of authors. This condition is believed to be common in Japan, but has been reported from other parts of the world. The objective of this presentation is to report a case of this syndrome in six-year-old girl, with characteristic findings. KCI Citation Count: 1