İbaa Yahya, Jalil I. Alezzi, Hikmet Akbulut, H. Peru
{"title":"Pallister-Killian综合征:一个案例研究","authors":"İbaa Yahya, Jalil I. Alezzi, Hikmet Akbulut, H. Peru","doi":"10.21765/PPRJOURNAL.400066","DOIUrl":null,"url":null,"abstract":"Abstract: Pallister-Killian syndrome (PKS) is an extremely rare medical condition characterized by tetrasomy of P arm in 12 th chromosome Individuals with this condition have also isochromosomic mosaicism. Pigmentation disorders mental retardation, seizures and hypotonia are common features of the syndrome. Anatomic malformation such as extremity deformities, short neck, frontal bossing, cardiac and renal pathologies are hallmark of clinical presentation in PKS. Here, we present a two-month-old boy with typical case of PKS, and would like to increase attention to Pallister-Killian Syndrome.","PeriodicalId":293877,"journal":{"name":"Pediatric Practice and Research","volume":"150 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2018-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Pallister-Killian Syndrome: A Case Study\",\"authors\":\"İbaa Yahya, Jalil I. Alezzi, Hikmet Akbulut, H. Peru\",\"doi\":\"10.21765/PPRJOURNAL.400066\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Abstract: Pallister-Killian syndrome (PKS) is an extremely rare medical condition characterized by tetrasomy of P arm in 12 th chromosome Individuals with this condition have also isochromosomic mosaicism. Pigmentation disorders mental retardation, seizures and hypotonia are common features of the syndrome. Anatomic malformation such as extremity deformities, short neck, frontal bossing, cardiac and renal pathologies are hallmark of clinical presentation in PKS. Here, we present a two-month-old boy with typical case of PKS, and would like to increase attention to Pallister-Killian Syndrome.\",\"PeriodicalId\":293877,\"journal\":{\"name\":\"Pediatric Practice and Research\",\"volume\":\"150 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2018-08-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric Practice and Research\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.21765/PPRJOURNAL.400066\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Practice and Research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.21765/PPRJOURNAL.400066","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Abstract: Pallister-Killian syndrome (PKS) is an extremely rare medical condition characterized by tetrasomy of P arm in 12 th chromosome Individuals with this condition have also isochromosomic mosaicism. Pigmentation disorders mental retardation, seizures and hypotonia are common features of the syndrome. Anatomic malformation such as extremity deformities, short neck, frontal bossing, cardiac and renal pathologies are hallmark of clinical presentation in PKS. Here, we present a two-month-old boy with typical case of PKS, and would like to increase attention to Pallister-Killian Syndrome.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
