title: Oro-dental features of Pallister-Killian syndrome: Evaluation of 21 European probands.
abstract: Pallister-Killian syndrome (PKS) is a rare sporadic multi-systemic developmental disorder caused by a mosaic tetrasomy of the short arm of chromosome 12. A wide range of clinical characteristics including intellectual disability, seizures, and congenital malformations has previously been described. Individuals with PKS show a characteristic facial phenotype with frontal bossing, alopecia, sparse eyebrows, depressed nasal bridge, long philtrum, telecanthus, and posteriorly rotated ears. Oro-dental features, such as "Pallister lip," macroglossia, delayed eruption of primary teeth, high arched-palate, prognathism, and cleft palate have been occasionally reported in the medical literature. The aim of the study was to assess the oro-dental phenotype of PKS and to describe the oral health status in a cohort participating in the First European Workshop on PKS. A clinical dental examination was performed in 21 Caucasian probands and data regarding medical and dental history collected. Twelve probands (57%) showed an atypical dental pattern, with multiple missing teeth (primarily the first permanent molars) and 2 (10%) a double teeth. The severity of gingivitis and dental caries increased with age and gingival overgrowth was a common finding. A characteristic occlusive phenotype was found: a high-arched palate with mandibular prognathism associated with an anterior openbite and crossbite and with posterior crossbite (unilateral or bilateral). The prevalence of oral habits (non-nutritive sucking, mouth breathing, bruxism) was high, even in older probands. This study suggests that individuals affected by PKS should be observed closely for oro-dental diseases and a multidisciplinary approach is needed to implement the right preventive measures. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Department of Biomedical and NeuroMotor Sciences (DiBiNeM), Unit of Dental Care for Special Needs Patients and Paediatric Dentistry, University of Bologna, Bologna, Italy.
authors.forename: Simone
authors.initials: S
authors.lastname: Bagattoni
authors.affiliation: Department of Biomedical and NeuroMotor Sciences (DiBiNeM), Unit of Dental Care for Special Needs Patients and Paediatric Dentistry, University of Bologna, Bologna, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: D'Alessandro
authors.affiliation: Department of Biomedical and NeuroMotor Sciences (DiBiNeM), Unit of Dental Care for Special Needs Patients and Paediatric Dentistry, University of Bologna, Bologna, Italy.
authors.forename: Agnese
authors.initials: A
authors.lastname: Sadotti
authors.affiliation: Department of Biomedical and NeuroMotor Sciences (DiBiNeM), Unit of Dental Care for Special Needs Patients and Paediatric Dentistry, University of Bologna, Bologna, Italy.
authors.forename: Nadia
authors.initials: N
authors.lastname: Alkhamis
authors.affiliation: Department of Medical and Surgical Sciences (DIMEC), Neonatology Unit, St. Orsola-Malpighi Polyclinic, University of Bologna, Bologna, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Rocca
authors.affiliation: Department of Medical and Surgical Sciences (DIMEC), Neonatology Unit, St. Orsola-Malpighi Polyclinic, University of Bologna, Bologna, Italy.
authors.forename: Guido
authors.initials: G
authors.lastname: Cocchi
authors.affiliation: Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
authors.forename: Ian David
authors.initials: ID
authors.lastname: Krantz
authors.affiliation: Department of Biomedical and NeuroMotor Sciences (DiBiNeM), Unit of Dental Care for Special Needs Patients and Paediatric Dentistry, University of Bologna, Bologna, Italy.
authors.forename: Gabriela
authors.initials: G
authors.lastname: Piana
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000175:diagnosis*; D002881:Chromosomes, Human, Pair 12; D015331:Cohort Studies; D003817:Dentition; D005260:Female; D006801:Humans; D008297:Male; D009056:Mouth Abnormalities; D010641:Phenotype; D010808:Physical Examination; D009057:Stomatognathic Diseases / Q000175:diagnosis; D014071:Tooth Abnormalities; D044465:White People; D055815:Young Adult
keywords: Pallister-Killian syndrome; dental anomalies; malocclusion; oral health