{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:10:18Z","timestamp":1792167018038,"version":"4.4.0"},"reference-count":27,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,2,6]],"date-time":"2014-02-06T00:00:00Z","timestamp":1391644800000},"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":[[2014,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>Pallister\u2013Killian syndrome (PKS) is a sporadic multisystem genetic diagnosis characterized by facial dysmorphia, variable developmental delay and intellectual impairment, hypotonia, hearing loss, seizures, differences in skin pigmentation, temporal alopecia, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities. Although congenital heart defects have been described in association with PKS, the full spectrum of heart disease is still not entirely known. Here, we describe the pattern of cardiac findings of 81 probands with PKS who have had at least one cardiac evaluation, demonstrating structural heart difference in 37% of our cohort (n\u2009=\u200930). Septal defects such as atrial or ventricular septal defects (n\u2009=\u200912) were the most commonly seen congenital heart differences. Additional findings included the occasional occurrence of bicuspid aortic valve, aortic dilatation, and cardiac hypertrophy\/cardiomyopathy. We suggest cardiac evaluation for all individuals with PKS at the time of diagnosis as well as subsequent longitudinal follow\u2010up to monitor for the development of cardiomyopathy and aortic dilatation. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36413","type":"journal-article","created":{"date-parts":[[2014,2,6]],"date-time":"2014-02-06T19:52:39Z","timestamp":1391716359000},"page":"1130-1135","source":"Crossref","is-referenced-by-count":18,"title":["Cardiac manifestations of Pallister\u2013Killian syndrome"],"prefix":"10.1002","volume":"164","author":[{"given":"Richard K.","family":"Tilton","sequence":"first","affiliation":[{"name":"Division of Human Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"},{"name":"Temple University School of Medicine Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alisha","family":"Wilkens","sequence":"additional","affiliation":[{"name":"Division of Human Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian D.","family":"Krantz","sequence":"additional","affiliation":[{"name":"Division of Human Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"},{"name":"The Perelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kosuke","family":"Izumi","sequence":"additional","affiliation":[{"name":"Division of Human Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"},{"name":"Research Center for Epigenetic Disease Institute for Molecular and Cellular Biosciences University of Tokyo Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,2,6]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1528-1157.2003.26102.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.54.12.2328"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0022217"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.2009.183871"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.342"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00416.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002469900420"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.01.019"},{"key":"e_1_2_6_10_1","unstructured":"KaurM ConlinLK SpinnerNB DeardorffMA FincherC WilkensA ZhangZ KrantzID.2010. Applying novel genomic tools towards understanding an old chromosomal diagnosis: Using genome\u2010wide expression and SNP genotyping to identify the true cause of Pallister\u2013Killian syndrome.Paper presented at 60th Annual Meeting of the American Society of Human Genetics Washington DC USA."},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0904744106"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0223(200008)20:8<670::AID-PD885>3.0.CO;2-U"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(200002)20:2<138::AID-PD772>3.0.CO;2-2"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.84"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e3181ed17e4"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11248-008-9214-3"},{"key":"e_1_2_6_17_1","first-page":"45","article-title":"Collaborative study of mosaic tetrasomy 12p or Pallister\u2013Killian syndrome (nineteen fetuses or children)","volume":"40","author":"Mathieu M","year":"1997","journal-title":"Ann Genet"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2008.01152.x"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1749"},{"key":"e_1_2_6_20_1","first-page":"103","article-title":"The Pallister mosaic syndrome","volume":"13","author":"Pallister PD","year":"1977","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb02832.x"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2008.05.059"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1748"},{"key":"e_1_2_6_24_1","first-page":"6","article-title":"Case report 72: Mental retardation, unusual facial appearance, abnormal hair","volume":"7","author":"Teschler\u2010Nicola M","year":"1981","journal-title":"Synd Ident"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2011.08.025"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310416"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35722"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970140904"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36413","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36413","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T16:03:12Z","timestamp":1696608192000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36413"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2,6]]},"references-count":27,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2014,5]]}},"alternative-id":["10.1002\/ajmg.a.36413"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36413","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,2,6]]}}}