Oral features in Kabuki make-up Syndrome

Authors:

ABSTRACT

Aim

Kabuki make-up Syndrome is so named because of the characteristic facies of the affected patient. The face is similar
to a Kabuki actor�s mask. The main aim of this report was to describe the oral features in Kabuki Syndrome, focusing on the tooth
anomalies. PATIENTS AND

Methods

Five subjects with Kabuki Syndrome, identified by the Child Neuropsychiatric Clinic of the
University of Sassari, Italy, were enrolled. Their medical records were reviewed and oral and dental examinations were completed. The
diagnosis was based upon the typical pattern of malformations and dysmorphic features reviewed by Matsumoto and Niikawa.

Results

All patients showed typical characteristics of the Syndrome such as a long palpebral fissure, lower palpebral eversion,
arched eyebrows, short nasal septum, prominent and large ears, fingertip pads, mental retardation, and paramedian elevation of the
lower lip.

Conclusion

Kabuki make-up Syndrome is of unknown origin but a genetic aetiopathogenesis has been proposed. It is
extremely rare; in Japan, where it is most frequent, it affects 1:32000 newborns. The typical facies of the syndrome, combined with
general medical and dental examinations, are very important for diagnosis confirmation.

PLUMX METRICS