Rates of tracheostomy in patients with complex skeletal dysplasia: A 32-year institutional experience.

Objective: Respiratory failure secondary to multilevel airway compromise may present complex airway challenges in patients with specific skeletal dysplasia diagnoses. This study sought to identify and characterize subgroups of skeletal dysplasia diagnoses that more frequently undergo operative airway evaluations and tracheostomy placement.

Methods: Retrospective electronic medical record review of pediatric patients with an ICD-10 associated skeletal dysplasia diagnosis and CPT-specified airway intervention at a tertiary pediatric hospital from 1990 to 2022. Patients without a defined skeletal dysplasia diagnosis, subjects with craniosynostosis syndromes, and those with limited clinical data were excluded. Collected variables included demographics, age at diagnosis, comorbidities, operative procedures, and airway interventions. Descriptive statistical analysis was utilized to evaluate data distribution.

Results: From the initial population of 313 patients, 41 subjects were confirmed to have clinical features and/or genetic testing consistent with a skeletal dysplasia diagnosis. A tracheostomy was placed in 19/41 subjects and these patients' records were further analyzed. Skeletal dysplasia groups with more frequent tracheostomy placement included Filamins and related disorders, Sulfation disorders, and Chondrodysplasia punctata. In the patients with a tracheostomy, skeletal dysplasia was diagnosed at a median age of 0.3 years (IQR 4.8 years), and tracheostomy was initiated at a median age of 1.8 years (IQR 2.2 years). Only four of these patients were successfully decannulated, and two subjects are deceased.

Conclusion: Over 32 years, nearly half of the skeletal dysplasia patients who underwent airway interventions eventually had a tracheostomy placed. Respiratory insufficiency and complex airway management challenges are common manifestations of skeletal dysplasia.