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

机译:先天性拇内翻畸形的产前诊断与9号染色体的周向倒置相关

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摘要

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.
机译:先天性拇内翻是大脚趾的一种罕见畸形,其特征为拇趾内收和第一meta趾关节的内侧移位。本文介绍了先天性拇内翻的产前诊断。由于怀孕22(+2)周时胎儿右大脚趾明显偏离,一名32岁的妇女被转诊到我们的病房。超声检查发现脚趾粗而短,在右侧内侧明显倾斜。进行羊膜穿刺术,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,这是首次报道的孤立性先天性拇内翻的产前诊断。先天性拇内翻可以在产前通过2D和4D超声检查轻松诊断。应考虑产前核型分析,尤其是在存在相关异常的情况下,例如多指畸形和马蹄内翻足。

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