Bilateral Total Hip Arthroplasty in Pseudoachondroplasia: Surgical Challenges & Outcomes

Document Type

Conference Proceeding - Restricted Access

Publication Date

5-9-2025

Abstract

Pseudoachondroplasia is an autosomal dominant genetic disorder caused by mutations in the cartilage oligomeric matrix protein (COMP) gene. It presents with normal birth height, followed by a progressive decline below growth curves by age two. Key features include short extremities, a normal facial appearance, a "windswept deformity" (bowing of one leg and knock knees on the other), and premature arthritis. The COMP mutation impairs chondrocytes in growth centers, causing defects in linear growth, resulting in joint cartilage erosion, early-onset osteoarthritis, or avascular necrosis. This report discusses a 20-year-old female with pseudoachondroplasia who underwent bilateral total hip arthroplasty for avascular necrosis, femoral head erosion and collapse, and acetabular dysplasia with significant disability related to these conditions.

Comments

2025 Research Day Corewell Health West, Grand Rapids, MI, May 9, 2025. Abstract 1806

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