A M Elliott, E R Roeder, D R Witt, D L Rimoin, R S Lachman
{"title":"Scapuloiliac dysostosis (Kosenow syndrome, pelvis-shoulder dysplasia) spectrum: three additional cases.","authors":"A M Elliott, E R Roeder, D R Witt, D L Rimoin, R S Lachman","doi":"10.1002/1096-8628(20001218)95:5<496::aid-ajmg16>3.0.co;2-e","DOIUrl":null,"url":null,"abstract":"<p><p>We report on 3 patients (2 sibs and an unrelated adult woman) with scapuloiliac dysostosis (Kosenow syndrome, Pelvis-Shoulder Dysplasia) each of whom has additional abnormalities not previously reported in the literature. The clinical spectrum of this entity is discussed along with possible inheritance patterns.</p>","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"95 5","pages":"496-506"},"PeriodicalIF":0.0000,"publicationDate":"2000-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/1096-8628(20001218)95:5<496::aid-ajmg16>3.0.co;2-e","citationCount":"10","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"American Journal of Medical Genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1002/1096-8628(20001218)95:5<496::aid-ajmg16>3.0.co;2-e","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 10
Abstract
We report on 3 patients (2 sibs and an unrelated adult woman) with scapuloiliac dysostosis (Kosenow syndrome, Pelvis-Shoulder Dysplasia) each of whom has additional abnormalities not previously reported in the literature. The clinical spectrum of this entity is discussed along with possible inheritance patterns.