Association between ribs shape and pulmonary function in patients with Osteogenesis Imperfecta

Area of Science:

• Orthopedics
• Pulmonology
• Biomedical Engineering

Background:

• Osteogenesis Imperfecta (OI) is a genetic disorder characterized by brittle bones, often leading to skeletal deformities.
• Thoracic insufficiency syndrome is a known complication in OI, affecting respiratory mechanics.
• The relative contribution of rib cage versus spine morphology to respiratory dysfunction in OI remains unclear.

Purpose of the Study:

• To investigate whether rib cage shape or thoracic spine shape is more influential on respiratory function in patients with OI.
• To quantify rib cage and spine morphology using 3D geometric morphometrics.
• To correlate specific morphological features with lung function parameters.

Main Methods:

• Utilized 3D geometric morphometrics to analyze rib cage and thoracic spine shape in OI patients and controls.
• Measured forced vital capacity (FVC) and forced expiratory volume in 1 second (FEV1) (absolute and % predicted).
• Performed regression analyses to assess the relationship between skeletal morphology and lung function.

Main Results:

• Rib cage shape demonstrated a significant relationship with FEV1, FVC, and FVC % predicted across the entire sample.
• Thoracic spine shape showed no significant correlation with any respiratory parameters.
• In OI patients, altered rib alignment (horizontal), increased antero-posterior depth, spine invagination, asymmetry, and thoraco-lumbar kyphosis were associated with lower FVC and FEV1.

Conclusions:

• Rib cage morphology, specifically rib shape, plays a more critical role in respiratory mechanics than thoracic spine shape in patients with OI.
• These findings highlight the importance of assessing rib cage deformities for understanding and potentially managing respiratory complications in OI.
• Rib shape alterations are significant predictors of reduced lung function in OI patients.