先天性单侧上肢及下肢复位1例

M. Kolahkaj, M. Nazari, Somayeh Makvandi
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引用次数: 0

摘要

背景:先天性肢体缺损是一种在产前超声检查中可以发现的罕见疾病。本研究的目的是报告一例罕见的先天性单侧上肢和下肢复位,这是产前超声未检测到的。病例报告:一个初产妇女被承认接受剖宫产由于臀部表现。常规血液检查和妊娠早期筛查结果正常。超声异常提示面中发育不全的可能性;然而,三维超声排除了这种情况。随后几周的其他超声检查显示胎儿健康状况正常。剖宫产的结果是一个女孩明显单侧缩短左肢体。其他相关异常包括鞍鼻、肝肿大、鱼鳞病和低耳。结论:妊娠中期超声异常扫描可早期发现先天性肢体缺损。建议预留足够的时间进行异常超声扫描,观察胎儿四肢的所有部位,并在冠状面、纵向面和轴向面进行胎儿检查。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A Case report of Congenital Unilateral Upper and Lower Limb Reduction
Background: Congenital limb reduction defect is a rare condition that is detectable in prenatal ultrasound. The purpose of this study was to report a rare case of congenital unilateral upper and lower limb reduction, which was not detected in prenatal ultrasound. Case report: A primiparous woman was admitted to undergo a cesarean section due to breech presentation. The results of routine blood tests and first-trimester screening were normal. Anomaly ultrasound scan indicated the possibility of midface hypoplasia; however, three-dimensional ultrasound ruled out this condition. Other ultrasound evaluations in the following weeks of pregnancy were indicative of the normal health condition of the fetus. The outcome of the cesarean section was a girl with obvious unilateral shortening of the left limbs. Other associated anomalies included saddle nose, hepatomegaly, ichthyosis, and low-set ears. Conclusion: Congenital limb reduction defect can be detected at an early stage through an anomaly ultrasound scan in the second trimester of pregnancy. It is recommended to allocate sufficient time for an anomaly ultrasound scan, observe all parts of the four fetal limbs, and perform fetal examination in all three coronal, longitudinal, and axial planes.
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