[Kabuki syndrome, a congenital syndrome with multiple anomalies]

Title[Kabuki syndrome, a congenital syndrome with multiple anomalies]
Publication TypeJournal Article
Year of Publication2006
Authorsden Biggelaar AM, Kuijpers-Jagtman AM, Bergé SJ, Katsaros C
JournalNederlands tijdschrift voor tandheelkunde
Date Published2006 Dec

The characteristics of a 5-years old girl, referred to a multidisciplinary team for cleft lip and palate because of speaking problems, were diagnosed as Kabuki syndrome. The Kabuki syndrome is a congenitali syndrome of unknown aetiology, diagnosed based on a combination of clinical findings. It is characterised by distinctive facial features, skeletal anomalies, dermatoglyphic abnormalities, developmental delay and mild to moderate mental retardation. Children with the syndrome often have oral manifestations such as cleft palatei, missing permanent teeth and conic crowns of upper incisorsi. The Kabuki syndrome was first described regarding the Japanese population but it is now known to occur in many other races as well. In a recent publication, 20 Dutch patients with Kabuki syndrome were described.

Alternate JournalNed Tijdschr Tandheelkd
Citation Key17193989