{"title":"南斯霍兰综合征1个家族临床特征及遗传模式的研究","authors":"S. Patil, K. Jain, J. M. Manoher, Vimla Beniwal","doi":"10.7869/DJO.365","DOIUrl":null,"url":null,"abstract":"Congenital cataract has various modes of inheritance. In Nance Horan syndrome, X linked recessive pattern of inheritance of congenital cataract is seen. Protein truncation mutation in an NHS gene located on Xp21.2-p22.3. could be associated with this syndrome. We report a case of Nance Horan syndrome family with bilateral congenital cataract with microcornea, strabismus, nystagmus, mental retardation, dysmorphic facies and dental anomalies. Treatment consists of surgery for cataract extraction, although results are poor.","PeriodicalId":23047,"journal":{"name":"The Official Scientific Journal of Delhi Ophthalmological Society","volume":"17 1","pages":"69-71"},"PeriodicalIF":0.0000,"publicationDate":"2018-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Study of A Family with Clinical Features and Inheritance Pattern of Nance Horan Syndrome\",\"authors\":\"S. Patil, K. Jain, J. M. Manoher, Vimla Beniwal\",\"doi\":\"10.7869/DJO.365\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Congenital cataract has various modes of inheritance. In Nance Horan syndrome, X linked recessive pattern of inheritance of congenital cataract is seen. Protein truncation mutation in an NHS gene located on Xp21.2-p22.3. could be associated with this syndrome. We report a case of Nance Horan syndrome family with bilateral congenital cataract with microcornea, strabismus, nystagmus, mental retardation, dysmorphic facies and dental anomalies. Treatment consists of surgery for cataract extraction, although results are poor.\",\"PeriodicalId\":23047,\"journal\":{\"name\":\"The Official Scientific Journal of Delhi Ophthalmological Society\",\"volume\":\"17 1\",\"pages\":\"69-71\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2018-05-21\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"The Official Scientific Journal of Delhi Ophthalmological Society\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.7869/DJO.365\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"The Official Scientific Journal of Delhi Ophthalmological Society","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.7869/DJO.365","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Study of A Family with Clinical Features and Inheritance Pattern of Nance Horan Syndrome
Congenital cataract has various modes of inheritance. In Nance Horan syndrome, X linked recessive pattern of inheritance of congenital cataract is seen. Protein truncation mutation in an NHS gene located on Xp21.2-p22.3. could be associated with this syndrome. We report a case of Nance Horan syndrome family with bilateral congenital cataract with microcornea, strabismus, nystagmus, mental retardation, dysmorphic facies and dental anomalies. Treatment consists of surgery for cataract extraction, although results are poor.
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