Objective: To describe the clinical, radiological and genetic findings of a family affected by Currarino syndrome (CS) (agenesis of the sacrum, presacral mass, and anal-rectal anomalies), and to familiarise the radiologist with this condition that, although uncommon, could be suspected by its characteristic images.
Material And Methods: A study was made of 8 out of 9 family members (the parents, 7 siblings; 4 males and 3 females) suspected of having CS. The clinical and genetic findings are described.