{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T03:58:56Z","timestamp":1780545536495,"version":"3.54.1"},"reference-count":36,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2016,6,29]],"date-time":"2016-06-29T00:00:00Z","timestamp":1467158400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>Pallister\u2013Killian syndrome (PKS) is a rare sporadic multi\u2010systemic 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\u2010dental features, such as \u201cPallister lip,\u201d macroglossia, delayed eruption of primary teeth, high arched\u2010palate, prognathism, and cleft palate have been occasionally reported in the medical literature. The aim of the study was to assess the oro\u2010dental 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\u2010arched palate with mandibular prognathism associated with an anterior openbite and crossbite and with posterior crossbite (unilateral or bilateral). The prevalence of oral habits (non\u2010nutritive sucking, mouth breathing, bruxism) was high, even in older probands. This study suggests that individuals affected by PKS should be observed closely for oro\u2010dental diseases and a multidisciplinary approach is needed to implement the right preventive measures. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37815","type":"journal-article","created":{"date-parts":[[2016,6,29]],"date-time":"2016-06-29T18:39:00Z","timestamp":1467225540000},"page":"2357-2364","source":"Crossref","is-referenced-by-count":10,"title":["Oro\u2010dental features of Pallister\u2013Killian syndrome: Evaluation of 21 European probands"],"prefix":"10.1002","volume":"170","author":[{"given":"Simone","family":"Bagattoni","sequence":"first","affiliation":[{"name":"Department of Biomedical and NeuroMotor Sciences (DiBiNeM) Unit of Dental Care for Special Needs Patients and Paediatric Dentistry, University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"D'Alessandro","sequence":"additional","affiliation":[{"name":"Department of Biomedical and NeuroMotor Sciences (DiBiNeM) Unit of Dental Care for Special Needs Patients and Paediatric Dentistry, University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnese","family":"Sadotti","sequence":"additional","affiliation":[{"name":"Department of Biomedical and NeuroMotor Sciences (DiBiNeM) Unit of Dental Care for Special Needs Patients and Paediatric Dentistry, University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Alkhamis","sequence":"additional","affiliation":[{"name":"Department of Biomedical and NeuroMotor Sciences (DiBiNeM) Unit of Dental Care for Special Needs Patients and Paediatric Dentistry, University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Rocca","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences (DIMEC) Neonatology Unit, St. Orsola\u2010Malpighi Polyclinic, University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guido","family":"Cocchi","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences (DIMEC) Neonatology Unit, St. Orsola\u2010Malpighi Polyclinic, University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian David","family":"Krantz","sequence":"additional","affiliation":[{"name":"Division of Human Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriela","family":"Piana","sequence":"additional","affiliation":[{"name":"Department of Biomedical and NeuroMotor Sciences (DiBiNeM) Unit of Dental Care for Special Needs Patients and Paediatric Dentistry, University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,6,29]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102877"},{"key":"e_1_2_6_3_1","first-page":"32","article-title":"Multiple osteomas, impacted teeth and odontomas\u2014A case report of Gardner's syndrome","volume":"48","author":"Bradley JF","year":"1977","journal-title":"J N J Dent Assoc"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35567"},{"key":"e_1_2_6_5_1","first-page":"614","article-title":"Pallister\u2013Killian syndrome with additional manifestations of cleft palate and sacral appendage","volume":"88","author":"Chaouachi S","year":"2010","journal-title":"Tunis Med"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10024"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1754-4505.2008.00013.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.17796\/jcpd.30.3.486515881824v5u1"},{"key":"e_1_2_6_9_1","first-page":"411","article-title":"Commission on oral health, research and epidemiology. 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