Clin Genet 1999: 56: 154–157 Printed in Ireland. All rights resered Short Report Kabuki syndrome: description of dental findings in 8 patients Mhanni AA, Cross HG, Chudley AE. Kabuki syndrome: description of dental findings in 8 patients. Clin Genet 1999: 56: 154–157. © Munksgaard, 1999 The cardinal features of Kabuki (Niikawa – Kuroki) syndrome (KS) in- clude 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 perma- nent 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. AA Mhanni a , HG Cross b and AE Chudley a,b a Department of Human Genetics and b Department of Pediatrics and Child Health, University of Manitoba and Children’s Hospital, Winnipeg, Manitoba, Canada. Key words: dental abnormalities – Kabuki syndrome – multiple congenital anomalies Corresponding author: AE Chudley, MD, Section of Genetics and Metabolism, Chil- dren’s Hospital, 840 Sherbrook St., Room FE229, Winnipeg, Manitoba R3A 1S1, Canada. Tel: +1 204 787 2494; fax: +1 204 787 1419; e-mail: chud- ley@cc.umanitoba.ca Received 1 April 1999, revised and ac- cepted for publication 15 April 1999 The cardinal features of Kabuki (Niikawa – Kuroki) syndrome (KS) include characteristic fa- cial dysmorphic features, skeletal abnormalities, dermatoglyphic abnormalities, mild to moderate mental deficiency, and postnatal growth retarda- tion (1, 2). The specific dysmorphic features that distinguish the syndrome are present in 100% of patients; in most, the diagnosis can be made from the facial ‘gestalt’ regardless of ethnic origin (3). KS was independently described by Niikawa et al. (1) and Kuroki et al. (2) in 1981 at two Japanese centers in the Kanto area and Hokkaido. The resemblance of the characteristic peculiar fa- cies seen in these patients to the make-up of the actors in the Japanese traditional Kabuki theatre gave this syndrome its alternate name: Kabuki make-up syndrome (1). It has been suggested that the term Kabuki syndrome should be used rather than Kabuki make-up syndrome as the latter may be unacceptable to some families (4). Although initially thought to be more prevalent in Japan, an increasing number of KS patients have been recognized in non-Japanese children, indicating that this syndrome is not as rare as first suggested (3, 5, 6). Here, we present 8 children with KS ascertained in the past 5 years in one genetics clinic with a population base of 1.2 million, and we review their clinical and dental features. Clinical and dental summaries The patients were ascertained in the Genetics clinic at Children’s Hospital in Winnipeg over the past 5 years. All were Caucasians, except 2 who were of mixed Aboriginal and Caucasian ethnic back- ground. Their birth and family histories were unre- markable. They were all born at term to healthy non-consanguineous parents after uneventful preg- nancies with no history of exposure to known teratogens. Chromosome analysis was performed in all and they were normal. The clinical findings of all cases are presented in Tables 1 and 2. The dental findings are summarized in Table 3. Repre- sentative appearance and radiologic features of the teeth are found in Figs. 1–3. Discussion The cardinal manifestations of KS include distinct facial features that become more prominent and more easily recognizable as the child grows older. They consist of long palpebral fissures with ever- 154