Congenital Tracheal Anomalies in the Craniosynostosis Syndromes

The authors present the case of a 12-year-old girl with Pfeiffer's syndrome who underwent successful resection of a tracheal cartilaginous sleeve (TCS) for treatment of sleep apnea. There is growing recognition of the inclusion of TCS in the spectrum of congenital cartilage malformations seen in patients with craniosynostosis (CS) syndromes. This case demonstrates the difficult therapeutic challenge created by the combination of hypopharyngeal and intrinsic airway abnormalities present in CS patients. The early recognition of TCS in these patients may provide the opportunity for improved outcome in this severely affected subgroup of CS patients with otherwise high mortality.