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[Kabuki syndrome, a congenital syndrome with multiple anomalies].
Ned Tijdschr Tandheelkd. 2006 Dec; 113(12):516-9.NT

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+Show Affiliations

den Biggelaar AM
Uit de afdeling Orthodontie en Orale Biologie, Universitair Medisch Centrum St Radboud, Nijmegen.
Kuijpers-Jagtman AM
No affiliation info available
Bergé SJ
No affiliation info available
Katsaros C
No affiliation info available

MeSH

Abnormalities, MultipleChild, PreschoolDentitionDermatoglyphicsFaceFemaleHumansMouth AbnormalitiesSyndromeTooth Abnormalities

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

dut

PubMed ID

17193989

Citation

den Biggelaar, A M., et al. "[Kabuki Syndrome, a Congenital Syndrome With Multiple Anomalies]." Nederlands Tijdschrift Voor Tandheelkunde, vol. 113, no. 12, 2006, pp. 516-9.
den Biggelaar AM, Kuijpers-Jagtman AM, Bergé SJ, et al. [Kabuki syndrome, a congenital syndrome with multiple anomalies]. Ned Tijdschr Tandheelkd. 2006;113(12):516-9.
den Biggelaar, A. M., Kuijpers-Jagtman, A. M., Bergé, S. J., & Katsaros, C. (2006). [Kabuki syndrome, a congenital syndrome with multiple anomalies]. Nederlands Tijdschrift Voor Tandheelkunde, 113(12), 516-9.
den Biggelaar AM, et al. [Kabuki Syndrome, a Congenital Syndrome With Multiple Anomalies]. Ned Tijdschr Tandheelkd. 2006;113(12):516-9. PubMed PMID: 17193989.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Kabuki syndrome, a congenital syndrome with multiple anomalies]. AU - den Biggelaar,A M, AU - Kuijpers-Jagtman,A M, AU - Bergé,S J, AU - Katsaros,C, PY - 2006/12/30/pubmed PY - 2007/1/26/medline PY - 2006/12/30/entrez SP - 516 EP - 9 JF - Nederlands tijdschrift voor tandheelkunde JO - Ned Tijdschr Tandheelkd VL - 113 IS - 12 N2 - 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. SN - 0028-2200 UR - https://www.unboundmedicine.com/medline/citation/17193989/[Kabuki_syndrome_a_congenital_syndrome_with_multiple_anomalies]_ L2 - http://www.diseaseinfosearch.org/result/3945 DB - PRIME DP - Unbound Medicine ER -