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Oro‐dental features of Pallister–Killian syndrome: Evaluation of 21 European probands
Author(s) -
Bagattoni Simone,
D'Alessandro Giovanni,
Sadotti Agnese,
Alkhamis Nadia,
Rocca Alessandro,
Cocchi Guido,
Krantz Ian David,
Piana Gabriela
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37815
Subject(s) - medicine , crossbite , dentinogenesis imperfecta , dentistry , prognathism , frontal bossing , mouth breathing , orthodontics , malocclusion , anatomy , breathing , osteotomy , dentin
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.