B.R. Van Den Houten , L.P. Ten Kate , J.C. Gerding
{"title":"Hajdu-Cheney综合症","authors":"B.R. Van Den Houten , L.P. Ten Kate , J.C. Gerding","doi":"10.1016/S0300-9785(85)80082-X","DOIUrl":null,"url":null,"abstract":"<div><p>The Hajdu-Cheney syndrome or acro-osteolysis syndrome is a rare disease. Only 18 well-documented cases are described in the literature. Presentation of cases in the oral surgical literature is rare. The syndrome is characterized by dissolution of terminal phalanges of the hands and feet, dolichocephaly, open cranial sutures, multiple wormian bones, absence of frontal sinuses, wide open sella turcica, progressive basilar invagination, early loss of teeth, short stature and characteristic facies. Inheritance is most likely autosomal dominant. 3 patients are presented, 2 of them are mother and son, the latter (case 2) being the youngest patient reported to date. The parents of the 3rd patient were consanguineous, raising the possibility of genetic heterogeneity. Dental, surgical and genetic aspects are discussed.</p></div>","PeriodicalId":14224,"journal":{"name":"International journal of oral surgery","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"1985-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0300-9785(85)80082-X","citationCount":"28","resultStr":"{\"title\":\"The Hajdu-Cheney syndrome\",\"authors\":\"B.R. Van Den Houten , L.P. Ten Kate , J.C. Gerding\",\"doi\":\"10.1016/S0300-9785(85)80082-X\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>The Hajdu-Cheney syndrome or acro-osteolysis syndrome is a rare disease. Only 18 well-documented cases are described in the literature. Presentation of cases in the oral surgical literature is rare. The syndrome is characterized by dissolution of terminal phalanges of the hands and feet, dolichocephaly, open cranial sutures, multiple wormian bones, absence of frontal sinuses, wide open sella turcica, progressive basilar invagination, early loss of teeth, short stature and characteristic facies. Inheritance is most likely autosomal dominant. 3 patients are presented, 2 of them are mother and son, the latter (case 2) being the youngest patient reported to date. The parents of the 3rd patient were consanguineous, raising the possibility of genetic heterogeneity. Dental, surgical and genetic aspects are discussed.</p></div>\",\"PeriodicalId\":14224,\"journal\":{\"name\":\"International journal of oral surgery\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1985-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/S0300-9785(85)80082-X\",\"citationCount\":\"28\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International journal of oral surgery\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S030097858580082X\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International journal of oral surgery","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S030097858580082X","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
The Hajdu-Cheney syndrome or acro-osteolysis syndrome is a rare disease. Only 18 well-documented cases are described in the literature. Presentation of cases in the oral surgical literature is rare. The syndrome is characterized by dissolution of terminal phalanges of the hands and feet, dolichocephaly, open cranial sutures, multiple wormian bones, absence of frontal sinuses, wide open sella turcica, progressive basilar invagination, early loss of teeth, short stature and characteristic facies. Inheritance is most likely autosomal dominant. 3 patients are presented, 2 of them are mother and son, the latter (case 2) being the youngest patient reported to date. The parents of the 3rd patient were consanguineous, raising the possibility of genetic heterogeneity. Dental, surgical and genetic aspects are discussed.