Kabuki make-up (Niikawa-Kuroki) syndrome: dental and craniofacial findings in a Brazilian child

Abstract

This article reports the case of a Brazilian child diagnosed with Kabuki make-up syndrome (KMS), addressing the clinical features observed, with emphasis on the disease-specific oral and craniofacial manifestations. The patient had the distinctive KMS craniofacial appearance, mild delayed mental development, fingers with prominent fingertip pads and visual deficit. The dental findings included fusion of the left mandibular incisors (central and lateral), gemination of the right mandibular central incisor and congenital agenesis of the right mandibular lateral incisor, in the primary dentition, as well as absence of both permanent mandibular lateral incisors. Fusion and gemination have not been previously referred to as typical dental features in KMS. The detection of unique dental findings, such as missing teeth and dental anomalies of form in the primary dentition by means of clinical and radiographic examinations, might consist of a helpful diagnosis parameter in identifying children who may have milder forms of Kabuki syndrome.

Avaliação odontológica em pacientes com síndrome de Kabuki

“…The most common dental finding was the dental absence, found in 7 patients, ranging from one tooth (patient 5) to seven absent teeth (patient 8, whose panoramic radiography is shown in figure 2). those included in this study are different from those already described by Souza et al (1996) and Santos et al (2006).…”

“…Anormalidades dentárias são achados comuns nos paciente com SK e são encontradas em mais de 70% nos indivíduos acometidos pela síndrome (Santos et al, 2006).…”

“…Hipodontia e dentes espaçados são achados comuns nos pacientes com SK (Niikawa et al, 1981;Souza et al, 1996;Matsune et al, 2001;Petzold et al, 2003;Santos et al, 2006) e os principais dentes ausentes são os incisivos laterais superiores e os incisivos centrais inferiores Petzold et al, 2003;Schrander-Stumpel et al, 2005). O principal achado odontológico encontrado neste estudo foi a hipodontia de dentes permanentes, encontrada em sete pacientes.…”

“…Outras manifestações orais foram descritas em pacientes com SK: dentes conóides Matsune et al, 2001); microdontia (Matsune et al, 2001); erupção ectópica ; palato profundo (Niikawa et al, 1981;Wilson, 1998;Matsune et al, 2001;Petzold et al, 2003); úlvula bífida (Niikawa et al, 1981;Wilson, 1998;Shalev et al, 2004); dentes fusionados (Santos et al, 2006); dentes geminados (Santos et al, 2006) e hipoplasia de esmalte (Matsune et al, 2001). Nenhuma destas alterações foi encontrada em nossa casuística.…”

“…Five cardinal clinical manifestations are helpful to identify this syndrome: 1) facial peculiarities, characterized by eversion of the lower lateral eyelid, arched eyebrows with sparse or scattered lateral one-third, a depressed nasal tip and prominent ears; 2) skeletal anomalies; 3) dermatoglyphic abnormalities; 4) mild to moderate mental retardation; 5) postnatal growth deficiency. In addition, a variety of somatic abnormalities has been recognized to be associated with KS, such as oral and dental findings (Niikawa et al, 1988;Santos et al, 2006). Oral manifestations are commonly observed in KS and may comprise: cleft lip/palate; bifid tongue and uvula; malocclusion (micrognathia, retrognathia, high-arched palate, widely spaced teeth); delayed tooth eruption pattern; dental abnormalities (hypodontia, conical teeth, neonatal teeth, large pulp chamber).…”