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与9号染色体臂间倒位相关的先天性拇内翻畸形的产前诊断。

Prenatal diagnosis of congenital hallux varus deformity associated with pericentric inversion of chromosome 9.

作者信息

Gürel Sebahat Atar

机构信息

Division of Perinatology, Department of Obstetrics and Gynecology, Maternity and Children's Hospital, Ministry of Health and Medical School of Ordu University, Ordu, Turkey.

出版信息

J Obstet Gynaecol Res. 2015 Apr;41(4):628-30. doi: 10.1111/jog.12603. Epub 2014 Dec 10.

Abstract

Congenital hallux varus is a rare deformity of the great toe characterized by adduction of the hallux and medial displacement of the first metatarsophalangeal joint. Prenatal diagnosis of congenital hallux varus is presented herein. A 32-year-old woman was referred to our unit due to significant deviation of the fetal right great toe at 22(+2) weeks of pregnancy. Ultrasound examination revealed a thick and short great toe, which was significantly angulated medially on the right side. Amniocentesis was performed and the result was reported as inv(9) (p11;q12). After delivery, the clinical examination confirmed the prenatal diagnosis. To our knowledge, this is the first reported prenatal diagnosis of an isolated congenital hallux varus. Congenital hallux varus can be diagnosed easily in the prenatal period by 2-D and 4-D ultrasonography. Prenatal karyotyping should be taken into consideration, especially in the presence of associated anomalies, such as polydactyly and clubfoot.

摘要

先天性拇内翻是一种罕见的大脚趾畸形,其特征为拇趾内收和第一跖趾关节向内侧移位。本文介绍了先天性拇内翻的产前诊断。一名32岁女性在妊娠22(+2)周时因胎儿右大脚趾明显偏斜被转诊至我院。超声检查显示右大脚趾粗短,向内侧明显成角。进行了羊水穿刺,结果报告为inv(9)(p11;q12)。分娩后,临床检查证实了产前诊断。据我们所知,这是首例孤立性先天性拇内翻产前诊断的报道。通过二维和四维超声检查可在孕期轻松诊断先天性拇内翻。应考虑进行产前核型分析,尤其是在存在多指畸形和马蹄内翻足等相关畸形的情况下。

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