Mohsen Javadzadeh, Hedieh Saneifard, Amir Hossein Hosseini
{"title":"Torticollis as the main presentation in a child with russell-silver syndrome: a case report.","authors":"Mohsen Javadzadeh, Hedieh Saneifard, Amir Hossein Hosseini","doi":"10.1155/2012/109416","DOIUrl":null,"url":null,"abstract":"<p><p>Russell-Silver syndrome is a genetic disorder the inheritance pattern of which is mostly sporadic. Some of the features of the syndrome are present at birth, and others appear in later years. The main clinical features include low birth weight, poor growth postnatally, short height, and discrepancies in size between the two sides of the body Abu-Amera et al. (2008), Binder et al. (2011). There is no statistical significant difference in prevalence between males and females. We report a case of Russell-Silver syndrome with intrauterine and postnatal growth retardation, triangular face, and body asymmetry, in addition to torticollis as a novel manifestation. In neck sonography, we found asymmetry of sternocleidomastoid muscles. In conclusion, we describe torticollis as a presentation of Russell-Silver syndrome.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2012 ","pages":"109416"},"PeriodicalIF":0.5000,"publicationDate":"2012-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2012/109416","citationCount":"2","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Pediatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1155/2012/109416","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2012/11/1 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 2
Abstract
Russell-Silver syndrome is a genetic disorder the inheritance pattern of which is mostly sporadic. Some of the features of the syndrome are present at birth, and others appear in later years. The main clinical features include low birth weight, poor growth postnatally, short height, and discrepancies in size between the two sides of the body Abu-Amera et al. (2008), Binder et al. (2011). There is no statistical significant difference in prevalence between males and females. We report a case of Russell-Silver syndrome with intrauterine and postnatal growth retardation, triangular face, and body asymmetry, in addition to torticollis as a novel manifestation. In neck sonography, we found asymmetry of sternocleidomastoid muscles. In conclusion, we describe torticollis as a presentation of Russell-Silver syndrome.
罗素-希尔综合征是一种遗传模式主要是散发性的遗传病。该综合征的一些特征在出生时就存在,而另一些则在以后的岁月中出现。主要临床特征为出生体重过低、出生后生长不良、身高过矮、两侧身体尺寸不一致(Abu-Amera et al. (2008), Binder et al.(2011))。男性和女性之间的患病率没有统计学上的显著差异。我们报告一例russel - silver综合征,伴有宫内和出生后生长迟缓,三角形面部和身体不对称,以及斜颈作为一种新的表现。在颈部超声检查中,我们发现胸锁乳突肌不对称。总之,我们将斜颈描述为罗素-希尔综合征的一种表现。