{"title":"Ocular anomalies in the branchio-oculo-facial syndrome.","authors":"C S Su, S B O'Hagen, T J Sullivan","doi":"10.1046/j.1440-1606.1998.00075.x","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>To describe the ocular anomalies in two cases of branchio-oculo-facial syndrome (BOFS).</p><p><strong>Methods: </strong>Two cases of BOFS are reviewed.</p><p><strong>Results/conclusions: </strong>Branchio-oculo-facial syndrome is a rare branchial cleft syndrome that is characterized by a typical facial appearance of pseudo-cleft or cleft lip, subauricular branchial sinuses, deafness and ocular anomalies, which include nasolacrimal obstruction, telecanthus and colobomata. It has an autosomal dominant inheritance pattern.</p>","PeriodicalId":8596,"journal":{"name":"Australian and New Zealand journal of ophthalmology","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"1998-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Australian and New Zealand journal of ophthalmology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1046/j.1440-1606.1998.00075.x","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
Purpose: To describe the ocular anomalies in two cases of branchio-oculo-facial syndrome (BOFS).
Methods: Two cases of BOFS are reviewed.
Results/conclusions: Branchio-oculo-facial syndrome is a rare branchial cleft syndrome that is characterized by a typical facial appearance of pseudo-cleft or cleft lip, subauricular branchial sinuses, deafness and ocular anomalies, which include nasolacrimal obstruction, telecanthus and colobomata. It has an autosomal dominant inheritance pattern.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
