Radial ray anomaly with associated ventricular septal defect – case report with review of literature

Amandeep Singh, Mehak Arora

Affiliation and address for correspondence
J Ultrason 2023; 23: e35–e38
DOI: 10.15557/JoU.2023.0007
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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.

radial ray; anomaly; aneuploidy; genetic syndrome