title: 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.
authors.affiliation: Department of Pediatric Clinics, Preventive and Social Dentistry, School of Dentistry of Ribeirão Preto, University of São Paulo, Ribeirão Preto, SP, Brazil.
authors.forename: Bianca Mota
authors.initials: BM
authors.lastname: dos Santos
authors.forename: Roberta Rezende
authors.initials: RR
authors.lastname: Ribeiro
authors.forename: Adriana Sasso
authors.initials: AS
authors.lastname: Stuani
authors.forename: Francisco Wanderley Garcia
authors.initials: FW
authors.lastname: de Paula e Silva
authors.forename: Alexandra Mussolino
authors.initials: AM
authors.lastname: de Queiroz
mesh_terms: D000015:Abnormalities, Multiple; D000848:Anodontia / Q000473:pathology; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000473:pathology*; D005671:Fused Teeth / Q000473:pathology; D006801:Humans; D007180:Incisor / Q000002:abnormalities; D008297:Male; D013577:Syndrome; D014071:Tooth Abnormalities / Q000473:pathology*; D014094:Tooth, Deciduous / Q000002:abnormalities