This article reports the case of an 8-year-old female with Kabuki syndrome and the oral/dental implications of this syndrome, namely hypodontia with interdental spacing, abnormal tooth morphology, malocclusion and a defect in the anterior midline of the palate. The oral findings will aid the clinician in diagnosing this syndrome, which was once thought to be seen exclusively in the Japanese population.
NiikawaN, MatsuuraN, FukushimaY, OhsawaT, KakiiTKabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears and postnatal growth deficiency. J Pediatr1981; 99: 565–69.
2.
KurokiY, SuzukiY, ChyoH, HataA, MatsuiIA new malformation of long palpabral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr1981; 99: 570–73.
3.
NiikawaN, KurokiY, KajiiT, Kabuki make-up (Niikawa–Kuroki) syndrome: a study of 62 patients. Am J Med Genet1988; 31: 565–89.
4.
MatsuneK, ShimizuT, TohmaT, AsadaY, OhashiH, MaedaTCraniofacial and dental characteristics of Kabuki Syndrome. Am J Med Genet2001; 98: 185–90.
5.
PetzoldD, KratzshE, OptzCH, TinschertSThe Kabuki syndrome: four patients with oral abnormalities. Eur J Orthod2003; 25(1); 13–19.
6.
AdamMP, HudginsLKabuki Syndrome: a review. Clin Genet2004; 67: 209–19.
7.
WessellsMW, BrooksAS, HoogeboomJ, NiermeijerMF, WillemsPJKabuki syndrome: a review study of three hundred patients. Clin Dysmorphol2002, 11: 95–102.
8.
HalalF, GledhillR, DudkiewiczAAutosomal dominant inheritance of the Kabuki make-up (Niikawa–Kuroki) syndrome. Am J Med Genet1989; 33: 376–81.
9.
VauxKK, HudginsL, BirdLM, Neonate phenotype in Kabuki syndrome. Am J Med Genet A2005; 132(3): 244–47.
10.
ShalevSA, ClarkeLA, KoehnD, Long-term follow-up of three individuals with Kabuki syndrome. Am J Med Genet A2004; 125(2): 191–200.
11.
DigilioMC, MarinoB, ToscanoA, GiannottiA, DallapiccolaBCongenital heart defects in Kabuki syndrome. Am J Med Genet2001; 100: 269–74.