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VACTERL association

Case contributed by Alexandra Stanislavsky
Diagnosis probable

Presentation

Day 1 of life, born at 32 weeks. Multiple abnormalities on antenatal imaging.

Patient Data

Age: Neonate
Gender: Female
x-ray
  • small volume opacified right hemithorax, no visible right lung tissue
  • no cardiac shadow - heart appears displaced to the right (dextro-rotation or dextrocardia)
  • entirely gasless, scaphoid abdomen

Case Discussion

This baby has had a thorough antenatal workup, including fetal MRI at 28 weeks, and this has greatly assisted in postnatal diagnosis and management.

From antenatal imaging, we knew that she had an aplastic right lung (with dextro-rotation +/- dextrocardia), intact right hemidiaphragm. There was also an absent left kidney.

Clinically, there was an imperforate anus. The scaphoid gasless abdomen suggests concurrent esophageal atresia, without a tracheo-esophageal fistula.

The constellation of tracheo-esophageal, anal and renal abnormalities meets the criteria for VACTERL association.

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