J Korean Assoc Oral Maxillofac Surg.  2007 Dec;33(6):681-683.

Kabuki syndrome with phonetic and dental problem: A case report

• Lee JS
• Ko SO
• Leem DH
• Baek JA
• Shin HK

Abstract

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 60percent) 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.

Keyword

Kabuki syndrome; Niikawa

MeSH Terms

Anodontia
Asian Continental Ancestry Group
Cleft Lip
Cleft Palate
Dentition
Dermatoglyphics
Ear
Eyebrows
Female
Fingers
Humans
Incisor
Intellectual Disability
Japan
Lip
Molar
Nasal Septum
Palate
Tooth