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Craniofacial features of 12 children with Noonan syndrome (NS) were compared with age and gender matched healthy children. Dental history, panoramic radiograph, dental casts, and cephalometric measurements were assessed. The palatal height was significantly increased in the study group compared with the control group (p = .009; paired t-test). The palatal width was significantly reduced in the study group compared with the control group (p = .006; paired t-test). The mean SNB was reduced in the study group compared with the control group (p = .02; paired t-test) and the ANB increased (p = .009; paired t-test). The mean Sum (NSAr + SArGo + ArgoMe) angle and SN-GoMe were increased in the study group compared with the control group (respectively, p = .015 and p = .002; paired t-test). The cephalometric analysis assessed a retruded position of the mandible, skeletal class II characteristics, and a vertical growth pattern. The mandibular hyperdivergency was associated to a positive overbite., (© 2021 Wiley Periodicals LLC.)

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., (© 2016 Wiley Periodicals, Inc.)