title: [Kabuki syndrome, a congenital syndrome with multiple anomalies].
abstract: 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 congenital 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 palate, missing permanent teeth and conic crowns of upper incisors. 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.
authors.affiliation: Uit de afdeling Orthodontie en Orale Biologie, Universitair Medisch Centrum St Radboud, Nijmegen.
authors.forename: A M
authors.initials: AM
authors.lastname: den Biggelaar
authors.forename: A M
authors.initials: AM
authors.lastname: Kuijpers-Jagtman
authors.forename: S J
authors.initials: SJ
authors.lastname: Bergé
authors.forename: C
authors.initials: C
authors.lastname: Katsaros
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D003817:Dentition; D003878:Dermatoglyphics; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D009056:Mouth Abnormalities / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D014071:Tooth Abnormalities / Q000175:diagnosis / Q000235:genetics*