Singh Amandeep, Arora Mehak
Radiodiagnosis and Imaging, Sri Guru Ram Das Institute of Medical Sciences and Research, Amritsar, Punjab, India.
J Ultrason. 2023 Feb 28;23(92):35-38. doi: 10.15557/JoU.2023.0007. eCollection 2023 Jan.
Ultrasound examination is used for the assessment of abnormal findings on prenatal screening. Radial ray defect can be screened by using ultrasonography. Abnormal findings can be detected quickly by having the understanding of the etiology, pathophysiology and embryology. It is a rare congenital defect that may be isolated or associated with other anomalies including Fanconi's syndrome and Holt-Oram syndrome. We report the case of a 28-year-old woman (G2P1L1) who presented for routine antenatal ultrasound at 25 weeks 0 days according to the last menstrual period. The patient did not have any level-II antenatal anomaly scan done. An ultrasound was performed, and the gestational age according to the ultrasound scan was 24 weeks and 3 days. In this paper, we present a brief review of embryology and critical practical points, and report a rare case of radial ray syndrome with associated ventricular septal defect.
超声检查用于评估产前筛查中的异常发现。桡骨射线缺陷可通过超声检查进行筛查。通过了解病因、病理生理学和胚胎学，可快速检测到异常发现。这是一种罕见的先天性缺陷，可能是孤立的，也可能与其他异常有关，包括范可尼综合征和霍尔特-奥拉姆综合征。我们报告一例28岁女性（G2P1L1）的病例，根据末次月经日期，该患者在孕25周0天时前来进行常规产前超声检查。该患者未进行任何二级产前异常扫描。进行了超声检查，根据超声扫描确定的孕周为24周3天。在本文中，我们简要回顾了胚胎学和关键实践要点，并报告了一例罕见的伴有室间隔缺损的桡骨射线综合征病例。
