Kabuki syndrome: description of dental findings in 8 patients.

TitleKabuki syndrome: description of dental findings in 8 patients.
Publication TypeJournal Article
Year of Publication1999
AuthorsMhanni AA, Cross HG, Chudley AE
JournalClinical genetics
Date Published1999 Aug

The cardinali 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 incisorsi. 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 laterali incisors, missing second premolars, and ectopici upper 6-year molars. We believe the presence of the unique dental findings will prove useful in the diagnostic assessment of individuals with KS.

Alternate JournalClin. Genet.
Citation Key10517254