Bilateral Amelia of the Lower Extremities and Caudal Regression Syndrome Overlapping with VACTERL-H Association—Cases and Review of the Embryological Underpinnings of VACTERL Association: A Case Series

Samenvatting

This case series presents a rare and complex clinical entity involving VACTERL association overlapping with hydrocephalus, caudal regression syndrome, and bilateral amelia. Three cases of fetuses with multiple congenital anomalies were identified, including hydrocephalus, esophageal atresia, omphalocele, imperforate anus, single umbilical artery, and bilateral lower limb amelia. Radiographic and anatomical evaluations confirmed the presence of these anomalies, highlighting the complexity and severity of the condition. Genetic and environmental factors were implicated in the pathogenesis, with potential implications for familial recurrence and genetic counseling. Management of such cases requires a multidisciplinary approach, emphasizing early detection, accurate diagnosis, and appropriate intervention to optimize outcomes. Further research is needed to elucidate the underlying mechanisms and identify potential therapeutic targets for improving outcomes in affected individuals. This case series underscores the importance of interdisciplinary collaboration and ongoing surveillance in the diagnosis and management of rare congenital anomalies.