Coexistence of left internal carotid agenesis, klippel-feil syndrome and postaxial polydactyly

Internal carotid artery agenesis is a rare anomaly that can be clinically asymptomatic. Klippel-Feil syndrome is a skeletal malformation characterized by vertebral fusion. Presence of postaxial polydactyly is suggestive of an underlying syndrome.

We report a rare case of a 44-year-old patient with non-specific symptoms and an association between these three rare abnormalities. Vascular anomalies were found using intracranial MR angiography and multi-detector CT angiography of the supraaortic arteries.

Presence of a single aforementioned anomaly requires cautious imaging assessment in order to detect possible associated anomalies and avoid diagnostic pitfalls. A possible common genetic background could explain the coexistence of these three anomalies.