Abnormal Bone Morphology in Charcot-Marie-Tooth Disease.

Area of Science:

• Orthopedics
• Medical Imaging
• Genetics

Background:

• Charcot-Marie-Tooth disease (CMT) is a neuropathy often associated with foot and ankle deformities.
• The underlying osseous (bone) shape abnormalities in CMT have not been well-quantified.
• This study investigates hindfoot bone morphology in CMT patients.

Purpose of the Study:

• To quantify and compare the three-dimensional (3D) bone shape of the hindfoot (calcaneus, talus, navicular) between patients with CMT and healthy controls.
• To identify specific osseous morphologic differences associated with CMT.

Main Methods:

• Weightbearing computed tomography (CT) scans were obtained for 21 CMT patients and 20 healthy controls.
• Detailed morphometric measurements of the calcaneus and talus were performed.
• 3D surface-mesh models were analyzed to compare hindfoot bone shape between groups.

Main Results:

• CMT patients exhibited significantly reduced talar sagittal declination and talar head coronal rotation.
• A smaller calcaneal radius of curvature and altered sagittal posterior tuberosity-posterior facet angle were observed in CMT patients.
• Surface-mesh analysis highlighted significant morphologic differences in the navicular, talus, and calcaneus.

Conclusions:

• This study provides the first quantitative evidence of hindfoot osteologic morphologic differences in CMT.
• Abnormalities in calcaneal shape, particularly a smaller axial radius of curvature, may indicate a need for surgical correction like 3D osteotomy in CMT patients.