Oro-dental features of Pallister-Killian syndrome: Evaluation of 21 European probands

Am J Med Genet A. 2016 Sep;170(9):2357-64. doi: 10.1002/ajmg.a.37815. Epub 2016 Jun 29.

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.

Keywords: Pallister-Killian syndrome; dental anomalies; malocclusion; oral health.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Chromosome Disorders / diagnosis*
  • Chromosomes, Human, Pair 12
  • Cohort Studies
  • Dentition
  • Female
  • Humans
  • Male
  • Mouth Abnormalities*
  • Phenotype*
  • Physical Examination
  • Stomatognathic Diseases / diagnosis
  • Tooth Abnormalities*
  • White People
  • Young Adult

Supplementary concepts

  • Pallister Killian syndrome