Pseudoachodroplasia: case report of an unusual cause of short stature

Abstract

Introduction: Pseudochondroplasia is the second most common form of skeletal dysplasia. It is a condition characterized by diverse manifestations in the axial and appendicular skeleton. Objective: To describe a patient with pseudoachondroplasia and remind pediatricians of this differential diagnosis in the investigation of short stature. Case description: A 5 years and 7 months old male patient presented with short stature, lameness, shortened hands and left genu valgus. Radiographic findings, and genetic analysis confirmed the diagnosis of pseudoachondroplasia. Discussion: Pseudochondroplasia is a skeletal dysplasia characterized by disproportionate short stature and early-onset osteoarthritis. This condition is caused by a mutation in the cartilage oligomeric matrix protein (COMP), expressed mainly in chondrocytes, that causes premature death of these cartilage tissue cells during bone growth, which leads to several joint changes. Although rare, it is the second most common form of skeletal dysplasia and should be considered when investigating children with growth disorders.