Pseudoachondroplasia in a child: The role of anthropometric measurements and skeletal imaging in differential diagnosis

Abstract

Pseudoachondroplasia is a rare osteochondrodysplasia characterized by disproportionate short stature and limb deformity. Diagnostic accuracy is based on a detailed evaluation of the radioclinical features. We report a boy with pseudoachondroplasia. We aim to underscore why is accurate delineation of the pattern of radioclinical skeletal abnormalities in pseudoachondroplasia a weighty part of diagnosis. Furthermore, we aim to highlight the main clinical and skeletal imaging features of skeletal dysplasias that overlap with pseudoachondroplasia using clinical cases evaluated in our institution. The findings affirm that anthropometric measurements and skeletal radiography are important contributors to the differential diagnosis and classification of disproportionate growth.

Keywords

• Paediatric musculoskeletal imaging
• Short limb disproportionate dwarfism
• Short stature
• Arthrogenic osteochondrodysplasia
• Genetic bone dysplasia
• Plain radiography