{"title":"Coffin Siris Syndrome with Significant Autistic Features.","authors":"Aamir Jalal Al-Mosawi","doi":"10.46940/scmcrj.01.1002","DOIUrl":null,"url":null,"abstract":"Abstract Coffin Siris Syndrome is a rare genetic dysmorphic disorder that was first described by Coffin and Siris in 1970. It is associated with mental retardation and distinctive coarse facial features including wide nose, wide mouth with thick everted upper and lower lips, thick eyebrows and lashes, hirsutism/hypertrichosis. Sparse scalp hair particularly in the temporal areas. Coffin Siris syndrome has been reported only once in Iraq. The first Iraq patient with Coffin Siris syndrome (Al Mosawi AJ,2006) was also the first patient in the Arab. The occurrence of significant autistic features in form of pervasive developmental disorder or autism has been very infrequently reported in association with Coffin Siris syndrome. This aim to report which is most probably the seventh case of Coffin Siris Syndrome associated with significant autistic features. The case is the second case of this syndrome in Iraq which is also the case number 170 in the world.","PeriodicalId":365087,"journal":{"name":"SunKrist Clinical and Medical Case Reports Journal","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2019-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"SunKrist Clinical and Medical Case Reports Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.46940/scmcrj.01.1002","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 1
Abstract
Abstract Coffin Siris Syndrome is a rare genetic dysmorphic disorder that was first described by Coffin and Siris in 1970. It is associated with mental retardation and distinctive coarse facial features including wide nose, wide mouth with thick everted upper and lower lips, thick eyebrows and lashes, hirsutism/hypertrichosis. Sparse scalp hair particularly in the temporal areas. Coffin Siris syndrome has been reported only once in Iraq. The first Iraq patient with Coffin Siris syndrome (Al Mosawi AJ,2006) was also the first patient in the Arab. The occurrence of significant autistic features in form of pervasive developmental disorder or autism has been very infrequently reported in association with Coffin Siris syndrome. This aim to report which is most probably the seventh case of Coffin Siris Syndrome associated with significant autistic features. The case is the second case of this syndrome in Iraq which is also the case number 170 in the world.