DENTOSKELETAL FEATURES OF KABUKI SYNDROME. A CASE-CONTROL STUDY

PURPOSE. Kabuki syndrome, also known as Kabuki Makeup syndrome or Niikawa-Kuroki syndrome, is a rare genetic disorder characterized by multiple and heterogeneous congenital malformations and intellectual disability. The aim of this case-control study was to compare the dento-skeletal anomalies of Kabuki syndrome with those of non-syndromic population (control).

MATERIALS AND METHODS. Patients affected by Kabuki syndrome referred to the University of Florence were included in the present study. Patients who were able to undergo a lateral cephalogram were matched with a control group of patients of similar age and sex derived from the University of Michigan Growth Study. Several linear and angular cephalometric variables were compared with t test for paired data.

RESULTS. A total of 10 patients with Kabuki syndrome were included in the study. Four patients had a history of cleft lip and palate. Eight patients showed at least one tooth agenesis. Lateral cephalograms were available for five patients. Regarding the craniofacial skeletal characteristics, the only statistically significant difference between the Kabuki group and the control group was represented by the inclination of the palatal plane to the cranial base (SN-PP). This was significantly higher in syndromic patients (3.8°, 95% CI from 2.1° to 5.4°, P = 0.003). The other variables were not statistically significant. The power of the study, however, was low.

CONCLUSIONS. Tooth agenesis, cleft lip and/or palate, and a steeper inclination of the palatal plane to the cranial base, were the most common dentoskeletal features detected in patients with Kabuki syndrome.