Kabuki syndrome: description of dental findings in 8 patients

The cardinal features of Kabuki (Niikawa-Kuroki) syndrome (KS) include char acteristic 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 Aborigina l and Caucasian descent. All had the facial gestalt, the dermatoglyphic abn ormalities characteristic of the syndrome, and developmental delay. Dental abnormalities of permanent teeth were seen in all 8 cases; 6 had missing lo wer 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 seco nd premolars, and ectopic upper 6-year molars. We believe the presence of t he unique dental findings will prove useful in the diagnostic assessment of individuals with KS.