CTICasesPfeiffer Syndrome with Tracheal Anomaly
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Imaging findings
A chest X-ray showed a lung nodule in the left apex. Chest CT revealed a bizarrely shaped trachea, appearing as a continuous cartilaginous tube fused all the way around. Head CT showed a funny shape to the skull, with narrowing of the upper part of the skull above the brow ridges and mild proptosis, consistent with a Cloverleaf-shaped skull.
Key takeaways
Pfeiffer syndrome is a condition caused by fibroblast growth factor receptor mutations, leading to premature closure of cranial sutures (craniosynostosis) and a characteristic skull shape. Tracheal anomalies, specifically a continuous cartilaginous tube, are also associated with this syndrome.
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