{"title":"鳃裂-眼-面综合征的眼部异常。","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":"26 1","pages":"43-6"},"PeriodicalIF":0.0000,"publicationDate":"1998-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"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\":\"26 1\",\"pages\":\"43-6\"},\"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}","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}
Ocular anomalies in the branchio-oculo-facial syndrome.
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.
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