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单侧肋骨发育不全:产前三维超声对罕见肋骨先天性异常的检测

Unilateral rib agenesis: antenatal three-dimensional ultrasonographic detection of the rare congenital anomaly of ribs.

作者信息

Chauhan Richa S, Mane Abhishek, Kathrani Nihar

机构信息

Department of Radiodiagnosis, All India Institute of Medical Sciences (AIIMS Raipur), Raipur, Chhattisgarh, India.

Asha Sonography and Imaging Centre, Nipani, Belgaum, Karnataka, India.

出版信息

J Ultrasound. 2025 Mar;28(1):257-260. doi: 10.1007/s40477-024-00952-2. Epub 2024 Sep 20.

DOI:10.1007/s40477-024-00952-2
PMID:39302599
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11947361/
Abstract

Congenital absence of ribs is a quite unusual entity that can present as an isolated finding or as a part of syndrome. Rib defects may be associated with maldevelopment of vertebral column or thoracic musculature. The congenital rib agenesis has been reported postnatally in a few case reports. We present a case of a primigravida referred for an anomaly scan at 20-weeks gestational age. On ultrasonography (USG), the fetus showed unilateral absence of left 5th-8th ribs with associated dysmorphism of other ipsilateral ribs, a right-sided lumbar supernumerary rib, and vertebral segmentation anomalies. The bony defects were well demonstrated by three-dimensional (3D) transabdominal USG. In our case, the unilateral rib agenesis was detected antenatally with no such report published earlier in the scientific literature.

摘要

先天性肋骨缺如是一种相当罕见的情况,可表现为孤立性发现或作为综合征的一部分。肋骨缺陷可能与脊柱或胸肌发育不良有关。先天性肋骨发育不全在少数病例报告中是产后报道的。我们报告一例初产妇,在孕20周时因异常扫描前来就诊。超声检查(USG)显示,胎儿左侧第5至第8肋骨单侧缺如,同侧其他肋骨伴有畸形,右侧腰部有一根多余肋骨,以及椎体节段异常。三维(3D)经腹超声很好地显示了骨缺损。在我们的病例中,产前检测到单侧肋骨发育不全,科学文献中此前尚无此类报告发表。

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本文引用的文献

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Anatomical variations and congenital anomalies of the ribs revisited by multidetector computed tomography.多层螺旋计算机断层扫描对肋骨解剖变异和先天性异常的再探讨
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J Ultrasound Med. 2008 Sep;27(9):1263-71. doi: 10.7863/jum.2008.27.9.1263.
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Prenatal diagnosis of isolated abnormal number of ribs.孤立性肋骨数目异常的产前诊断
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