{"title":"13三体表现为新生儿双眼无眼、左足轴后多指畸形和面部粗糙:1例报告","authors":"P. Y. Ozcan, H. Çelik, E. Tuncez, Melda Çelik","doi":"10.5336/OPHTHAL.2016-50074","DOIUrl":null,"url":null,"abstract":"characterized by the presence of an extra chromosome 13 in each cell of the body. This syndrome is the third most commonly diagnosed autosomal trisomy syndrome among liveborn infants.1 The prevalance is estimated between 1/10 000 and 1/20 000 in live births, generally resulting with spontaneous abortion.2 This rare but lethal chromosomal disorder is associated with multiple congenital anomalies including microphthalmia or anophthalmia, microcephaly, holoprocencephaly, scalp defects, postaxial polydactyly of the hands or feet, orofacial clefting, congenital heart defects, and severe mental and growth retardation.3 Turkiye Klinikleri J Ophthalmol 2017;26(4):293-6","PeriodicalId":190073,"journal":{"name":"Turkiye Klinikleri Journal of Ophthalmology","volume":"53 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Trisomy 13 Presented with Bilateral Anophthalmia, Postaxial Polydactyly on the Left Foot and Coarse Facial Appearance in a Newborn Infant: Case Report\",\"authors\":\"P. Y. Ozcan, H. Çelik, E. Tuncez, Melda Çelik\",\"doi\":\"10.5336/OPHTHAL.2016-50074\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"characterized by the presence of an extra chromosome 13 in each cell of the body. This syndrome is the third most commonly diagnosed autosomal trisomy syndrome among liveborn infants.1 The prevalance is estimated between 1/10 000 and 1/20 000 in live births, generally resulting with spontaneous abortion.2 This rare but lethal chromosomal disorder is associated with multiple congenital anomalies including microphthalmia or anophthalmia, microcephaly, holoprocencephaly, scalp defects, postaxial polydactyly of the hands or feet, orofacial clefting, congenital heart defects, and severe mental and growth retardation.3 Turkiye Klinikleri J Ophthalmol 2017;26(4):293-6\",\"PeriodicalId\":190073,\"journal\":{\"name\":\"Turkiye Klinikleri Journal of Ophthalmology\",\"volume\":\"53 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1900-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Turkiye Klinikleri Journal of Ophthalmology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5336/OPHTHAL.2016-50074\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Turkiye Klinikleri Journal of Ophthalmology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5336/OPHTHAL.2016-50074","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Trisomy 13 Presented with Bilateral Anophthalmia, Postaxial Polydactyly on the Left Foot and Coarse Facial Appearance in a Newborn Infant: Case Report
characterized by the presence of an extra chromosome 13 in each cell of the body. This syndrome is the third most commonly diagnosed autosomal trisomy syndrome among liveborn infants.1 The prevalance is estimated between 1/10 000 and 1/20 000 in live births, generally resulting with spontaneous abortion.2 This rare but lethal chromosomal disorder is associated with multiple congenital anomalies including microphthalmia or anophthalmia, microcephaly, holoprocencephaly, scalp defects, postaxial polydactyly of the hands or feet, orofacial clefting, congenital heart defects, and severe mental and growth retardation.3 Turkiye Klinikleri J Ophthalmol 2017;26(4):293-6