Case of the Week #634

Lech Dudarewicz (1), Robert Śmigiel (2), Javier Cortejoso (3)
(1) Polish Mother's Research Institute, Department of Genetics; (2) Department of Pediatrics, Division Pediatric Propedeutics and Rare Disorders, Wroclaw Medical University, Poland; (3) Centro Médico Recoletas, Valladolid, Spain

Posting Dates: Aug 15, 2025 - Aug 30, 2025

A 30-year-old primigravid woman was referred to our office at 23 weeks, 3 days of gestation due to suspected fetal dysmorphic features and a single umbilical artery observed on routine mid-trimester ultrasound. Ultrasound findings are shown below. The patient had polyhydramnios. The remainder of the scan was normal.

What is the most likely diagnosis?

Video 1 © 2025 Lech Dudarewicz
Video 2 © 2025 Lech Dudarewicz
Video 3 © 2025 Lech Dudarewicz
Video 4 © 2025 Lech Dudarewicz
Video 5 © 2025 Lech Dudarewicz
Video 6 © 2025 Lech Dudarewicz
Video 7 © 2025 Lech Dudarewicz
Video 8 © 2025 Lech Dudarewicz
Image 1

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