罕见病例单眼全脑畸形伴单眼视力障碍的病例报告

Dr. Bandana Sharma, Himani Malviya, Dr. Anchal Malik, Rahul Ray
{"title":"罕见病例单眼全脑畸形伴单眼视力障碍的病例报告","authors":"Dr. Bandana Sharma, Himani Malviya, Dr. Anchal Malik, Rahul Ray","doi":"10.32677/ijcr.v10i7.4582","DOIUrl":null,"url":null,"abstract":"Alobar holoprosencephaly with cyclopia is a rare lethal congenital anomaly frequently accompanied by other malformations and characterized by large variations in incidence. Alobar holoprosencephaly presents as a congenital brain malformation characterized by the incomplete separation of the brain hemispheres during fetal development, typically occurring between the 4th and 6th gestational weeks, affecting about 1 in 250 conceptuses and 1 in 16,000 live births. This anomaly involves the failure of transverse cleavage into the diencephalon and telencephalon and is often accompanied by various midline facial abnormalities. In this report, we detail a case of a patient diagnosed prenatally with alobar holoprosencephaly with cyclopia, which is a rare, severe craniofacial abnormality encountered in approximately 1 in 100,000 births. Due to the severity of the condition, the decision was made to induce labor, resulting in the delivery of a stillborn baby. Despite the grim prognosis associated with this condition, we emphasize the importance of comprehensive prenatal counseling and support for families navigating such complex medical circumstances. Through this report, we aim to contribute to the understanding and compassionate care of individuals affected by alobar holoprosencephaly with cyclopia.","PeriodicalId":13365,"journal":{"name":"Indian Journal of Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A rare occurrence: A case report on alobar holoprosencephaly with cyclopia\",\"authors\":\"Dr. Bandana Sharma, Himani Malviya, Dr. Anchal Malik, Rahul Ray\",\"doi\":\"10.32677/ijcr.v10i7.4582\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Alobar holoprosencephaly with cyclopia is a rare lethal congenital anomaly frequently accompanied by other malformations and characterized by large variations in incidence. Alobar holoprosencephaly presents as a congenital brain malformation characterized by the incomplete separation of the brain hemispheres during fetal development, typically occurring between the 4th and 6th gestational weeks, affecting about 1 in 250 conceptuses and 1 in 16,000 live births. This anomaly involves the failure of transverse cleavage into the diencephalon and telencephalon and is often accompanied by various midline facial abnormalities. In this report, we detail a case of a patient diagnosed prenatally with alobar holoprosencephaly with cyclopia, which is a rare, severe craniofacial abnormality encountered in approximately 1 in 100,000 births. Due to the severity of the condition, the decision was made to induce labor, resulting in the delivery of a stillborn baby. Despite the grim prognosis associated with this condition, we emphasize the importance of comprehensive prenatal counseling and support for families navigating such complex medical circumstances. Through this report, we aim to contribute to the understanding and compassionate care of individuals affected by alobar holoprosencephaly with cyclopia.\",\"PeriodicalId\":13365,\"journal\":{\"name\":\"Indian Journal of Case Reports\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-07-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Indian Journal of Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.32677/ijcr.v10i7.4582\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Indian Journal of Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.32677/ijcr.v10i7.4582","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

摘要

环状全脑畸形(Alobar holoprosencephaly with cyclopia)是一种罕见的致死性先天畸形,常伴有其他畸形,发病率差异很大。环状全脑畸形是一种先天性脑畸形,特点是在胎儿发育过程中大脑半球分离不完全,通常发生在第 4 至第 6 胎周,大约每 250 个受孕胎儿中就有 1 例,每 16 000 个活产婴儿中就有 1 例。这种畸形包括双脑和端脑的横裂失败,通常伴有各种中线面部畸形。在本报告中,我们详细介绍了一例产前诊断为无脑儿全脑畸形伴旋回眼的患者,这是一种罕见的严重颅面畸形,出生率约为十万分之一。由于病情严重,医生决定引产,结果产下了一个死胎。尽管这种情况的预后很糟糕,但我们仍强调,在这种复杂的医疗环境下,为家庭提供全面的产前咨询和支持非常重要。通过本报告,我们希望能帮助人们理解和关爱患有眼球后凸畸形伴眼旋畸形的患者。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A rare occurrence: A case report on alobar holoprosencephaly with cyclopia
Alobar holoprosencephaly with cyclopia is a rare lethal congenital anomaly frequently accompanied by other malformations and characterized by large variations in incidence. Alobar holoprosencephaly presents as a congenital brain malformation characterized by the incomplete separation of the brain hemispheres during fetal development, typically occurring between the 4th and 6th gestational weeks, affecting about 1 in 250 conceptuses and 1 in 16,000 live births. This anomaly involves the failure of transverse cleavage into the diencephalon and telencephalon and is often accompanied by various midline facial abnormalities. In this report, we detail a case of a patient diagnosed prenatally with alobar holoprosencephaly with cyclopia, which is a rare, severe craniofacial abnormality encountered in approximately 1 in 100,000 births. Due to the severity of the condition, the decision was made to induce labor, resulting in the delivery of a stillborn baby. Despite the grim prognosis associated with this condition, we emphasize the importance of comprehensive prenatal counseling and support for families navigating such complex medical circumstances. Through this report, we aim to contribute to the understanding and compassionate care of individuals affected by alobar holoprosencephaly with cyclopia.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信