Kabuki syndrome: description of dental findings in 8 patients


Corresponding author: AE Chudley, MD, Section of Genetics and Metabolism, Children's Hospital, 840 Sherbrook St., Room FE229, Winnipeg, Manitoba R3A 1S1, Canada. Tel: +1 204 787 2494; fax: +1 204 787 1419; e-mail: chudley@cc.umanitoba.ca


The cardinal features of Kabuki (Niikawa–Kuroki) syndrome (KS) include characteristic facial dysmorphic features, mild to moderate mental deficiency, skeletal abnormalities, dermatoglyphic abnormalities, and postnatal growth retardation. We identified 8 patients with KS in a genetics clinic over the past 5 years. All were Caucasians, except for 2 who were of mixed Aboriginal and Caucasian descent. All had the facial gestalt, the dermatoglyphic abnormalities characteristic of the syndrome, and developmental delay. Dental abnormalities of permanent teeth were seen in all 8 cases; 6 had missing lower incisors. Five patients had uniquely abnormal upper incisor teeth shape; the upper incisors had a ‘flat head’ screwdriver-shaped appearance. Other dental abnormalities included missing lower lateral incisors, missing second premolars, and ectopic upper 6-year molars. We believe the presence of the unique dental findings will prove useful in the diagnostic assessment of individuals with KS.