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轴后多指畸形:一例报告,重点介绍遗传背景、流行病学趋势及治疗选择。

Postaxial polydactyly: A case report highlighting genetic context, epidemiological trends, and management options.

作者信息

Yared Georges, Ghazal Kariman, Younis Ali, Alakrah Wardah, Massaad Christopher, Hajj Khodor Al, El Hajjar Charlotte, Matar Maroun

机构信息

Department of Obstetrics and Gynecology, Lebanese American University, The Gilbert and Rose-Marie Chagoury School of Medicine, Beirut, Lebanon.

Department of Obstetrics and Gynecology, Lebanese University, Faculty of Medical Sciences, Beirut, Lebanon.

出版信息

SAGE Open Med Case Rep. 2024 Sep 18;12:2050313X241282215. doi: 10.1177/2050313X241282215. eCollection 2024.

Abstract

This case report examines a newborn with bilateral postaxial polydactyly type B, delivered by a 42-year-old mother with a history of third-degree consanguinity. The mother, having had no prior live births and one abortion, presented at 39 weeks gestation. The absence of prenatal care is noted, with its potential impact on prenatal diagnosis not assessed. The newborn, a healthy girl, weighed 3400 g with an Apgar score of 9/10. Radiographic and physical examination revealed vestigial sixth digits with rudimentary phalanges, influencing the surgical approach. This report underscores the importance of genetic counseling in cases of consanguinity and illustrates the multidisciplinary strategy necessary for managing polydactyly, from surgical considerations to genetic evaluation.

摘要

本病例报告研究了一名患有双侧B型轴后多指畸形的新生儿,其母亲为42岁,有三级近亲结婚史。这位母亲此前没有活产史,有过一次流产,在妊娠39周时就诊。注意到其未进行产前检查,且未评估其对产前诊断的潜在影响。这名新生儿是一名健康女婴,体重3400克,阿氏评分9/10。影像学和体格检查发现有残留的第六指,伴有发育不全的指骨,这影响了手术方式。本报告强调了近亲结婚情况下遗传咨询的重要性,并说明了处理多指畸形所需的多学科策略,从手术考虑到基因评估。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3ae7/11418334/f46ffafe7863/10.1177_2050313X241282215-fig1.jpg

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