Kabuki syndrome: a case report

Abstract

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.

Orthodontic Treatment of a Kabuki Syndrome Patient

“…Kabuki syndrome was first described in 1985 independently by 2 Japanese scientists: Norio Niikawa and Yoshi Kuroki; hence, multiple names of the syndrome are still in use: Niikawa-Kuroki syndrome or Kabuki make-up syndrome. Later on KS has been also described by other authors (Petzold et al, 2003;Atar et al, 2006;dos Santos et al, 2006;Lung and Rennie 2006;Szczepanik et al, 2006;Suarez Guerrero et al, 2012).…”

Kabuki Make-up Syndrome – A Case Report with Electromyographic study

“…Approximately one-third of KMS patients have cleft lip/ palate, and a high arched palate has been seen in almost two-thirds of patients. KMS patients may also exhibit ptosis, an expressionless face and a drooping lower lip [7]. Petzold et al, [5] described dental radiographic features of enlarged pulp cavities of molars with pulp stones, widened pulp chambers of incisors, external root resorption of incisors, incomplete root formation and root division of a normally single-rooted tooth.…”

“…KMS patients have a tendency of midface hypoplasia possibly predisposing them to the development of a small dental arch and malocclusion (associated arch discrepancy). Abnormal tooth morphology has been seen in this syndrome with teeth being conically-shaped and the upper incisors as 'flat head' screwdriver-shaped, which may aid diagnosis [7].…”

Kabuki syndrome: A challenge for the primary care provider

“…Clinical recognition of the syndrome in the neonate is difficult as the phenotype appears to evolve with time in early childhood. The diagnosis is, on average, made by the age of 2 years (Lung & Rennie, ). While there is no specific diagnostic criteria, children with KMS have distinct facial features that can include arched eyebrows, thick eyelashes, eversion of the lateral lower lid, depressed nasal tip, prominent ears, and long palpebral fissures which all contribute to the resemblance of a Kabuki actor, especially in children of Asian descent (Schmiedge, ).…”

“…Not being a progressive disease, the prognosis for survival into adulthood is relatively good as KMS is not typically associated with severe medical complications (Lung & Rennie, ; Schmiedge, ) even with multiple organ system involvement. This is also true for those with more involved congenital anomalies, such as congenital heart defects and infections if their conditions are well managed (Adam & Hudgins, 2004).…”