Atilano G Lacson, Gail Donaldson, Enid Gilbert Barness, Judith D Ranells, Herbert H Pomerance
{"title":"Infant with high arched palate, bell-shaped chest, joint contractures, and intrauterine fractures.","authors":"Atilano G Lacson, Gail Donaldson, Enid Gilbert Barness, Judith D Ranells, Herbert H Pomerance","doi":"10.1080/pdp.21.6.569.584","DOIUrl":null,"url":null,"abstract":"<p><p>A case is presented of a female newborn infant delivered with an Apgar Score of 1, who could not be resuscitated. There was a high arched palate, bell-shaped chest, contractures of writes inflexion, ankles and knees in extension, and intrauterine fractures. Clinical discussion led to a diagnosis of arthrogryposis secondary to fetal akinesia syndrome caused by nemaline myopathy. Pathology and pathologic discussion confirmed this diagnosis.</p>","PeriodicalId":82276,"journal":{"name":"Pediatric pathology & molecular medicine","volume":"21 6","pages":"569-84"},"PeriodicalIF":0.0000,"publicationDate":"2002-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/pdp.21.6.569.584","citationCount":"9","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric pathology & molecular medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1080/pdp.21.6.569.584","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 9
Abstract
A case is presented of a female newborn infant delivered with an Apgar Score of 1, who could not be resuscitated. There was a high arched palate, bell-shaped chest, contractures of writes inflexion, ankles and knees in extension, and intrauterine fractures. Clinical discussion led to a diagnosis of arthrogryposis secondary to fetal akinesia syndrome caused by nemaline myopathy. Pathology and pathologic discussion confirmed this diagnosis.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
