Severe caudal regression syndrome with overlapping features of VACTERL complex: antenatal detection and follow up

Abstract

Caudal regression is a rare syndrome with a spectrum of structural defects involving multiple organ systems. Spinal anomalies, a charecteristic feature of the entity, can vary from isolated partial agenesis of the coccyx to lumbosacral agenesis with involvement of the thoracic spine in the most severe cases. The aetiology of this syndrome is not well-known. Maternal diabetes, genetic predisposition and vascular hypoperfusion have been suggested as possible causative factors. Severe forms of the disease are commonly associated with cardiac, renal and respiratory problems with overlapping feature of VACTERL complex (vertebral, anorectal, cardiac, tracheoesophageal, renal and limb anomalies). In this case report, we describe imaging appearances of severe caudal regression syndrome, VACTERL complex associated with multisystem anomalies, detected on a screening antenatal scan during second trimester. Some unusual features of the syndrome including sternal anomaly and absent bony hemithorax are highlighted.

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