{"title":"[Kniest's dysplasia].","authors":"S Tscherninkov, A Alexandrov","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>Three women with dwarfism and skeletal defects characteristic for Kniest's dysplasia are described. In two of the patients (from two generations of one family) there are only skeletal defects. In the third patient they are combined with other symptoms pertaining to the tendons, the sclerae, the eye lenses, the retinal vessels and loss of hearing. This allows the conclusion of genetic variations of the disease--such pertaining to the skeleton and others, where the inferiority of collagen is not limited to the skeleton.</p>","PeriodicalId":20972,"journal":{"name":"Radiologia diagnostica","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"1990-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Radiologia diagnostica","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Three women with dwarfism and skeletal defects characteristic for Kniest's dysplasia are described. In two of the patients (from two generations of one family) there are only skeletal defects. In the third patient they are combined with other symptoms pertaining to the tendons, the sclerae, the eye lenses, the retinal vessels and loss of hearing. This allows the conclusion of genetic variations of the disease--such pertaining to the skeleton and others, where the inferiority of collagen is not limited to the skeleton.
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