{"title":"一例罕见的女性新生儿完全性隐眼并疑似弗雷泽综合征。","authors":"Rithika Ramadugu, Satwik Kuppili, Tarun Kumar Suvvari, Vindhya Vasini Lella, Vimal Thomas","doi":"10.1177/11795476231189042","DOIUrl":null,"url":null,"abstract":"<p><p>Cryptophthalmos is a rare congenital eye anomaly characterized by the absence of the palpebral fissure. Cryptophthalmos is often associated with Fraser's syndrome. We present a case of 3 days old female Asian neonate with complete unilateral cryptophthalmos, with the absence of a right eyelid. On inspection, there is an absence of eyelid, eyebrow and eyelashes in the right eye, collectively known as adnexal structures. The left eye was apparently normal. As per the parent's decision, surgical intervention was not pursued due to the poor visual prognosis. We advised prenatal genetic screening and testing for future pregnancies. These findings suggest the importance of genetic counseling and testing in cases of cryptophthalmos to identify potential genetic mutations and facilitate appropriate management.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"16 ","pages":"11795476231189042"},"PeriodicalIF":0.8000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/17/96/10.1177_11795476231189042.PMC10363858.pdf","citationCount":"0","resultStr":"{\"title\":\"A Rare Case of Complete Cryptophthalmos and Suspected Fraser's Syndrome in a Female Neonate.\",\"authors\":\"Rithika Ramadugu, Satwik Kuppili, Tarun Kumar Suvvari, Vindhya Vasini Lella, Vimal Thomas\",\"doi\":\"10.1177/11795476231189042\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Cryptophthalmos is a rare congenital eye anomaly characterized by the absence of the palpebral fissure. Cryptophthalmos is often associated with Fraser's syndrome. We present a case of 3 days old female Asian neonate with complete unilateral cryptophthalmos, with the absence of a right eyelid. On inspection, there is an absence of eyelid, eyebrow and eyelashes in the right eye, collectively known as adnexal structures. The left eye was apparently normal. As per the parent's decision, surgical intervention was not pursued due to the poor visual prognosis. We advised prenatal genetic screening and testing for future pregnancies. These findings suggest the importance of genetic counseling and testing in cases of cryptophthalmos to identify potential genetic mutations and facilitate appropriate management.</p>\",\"PeriodicalId\":10357,\"journal\":{\"name\":\"Clinical Medicine Insights. Case Reports\",\"volume\":\"16 \",\"pages\":\"11795476231189042\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/17/96/10.1177_11795476231189042.PMC10363858.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Medicine Insights. Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1177/11795476231189042\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Medicine Insights. Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/11795476231189042","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
A Rare Case of Complete Cryptophthalmos and Suspected Fraser's Syndrome in a Female Neonate.
Cryptophthalmos is a rare congenital eye anomaly characterized by the absence of the palpebral fissure. Cryptophthalmos is often associated with Fraser's syndrome. We present a case of 3 days old female Asian neonate with complete unilateral cryptophthalmos, with the absence of a right eyelid. On inspection, there is an absence of eyelid, eyebrow and eyelashes in the right eye, collectively known as adnexal structures. The left eye was apparently normal. As per the parent's decision, surgical intervention was not pursued due to the poor visual prognosis. We advised prenatal genetic screening and testing for future pregnancies. These findings suggest the importance of genetic counseling and testing in cases of cryptophthalmos to identify potential genetic mutations and facilitate appropriate management.