Radiologic Differentiation of Hypochondroplasia from Similar Skeletal Dysplasias: A Pictorial Review

Hypochondroplasia (HCH), a mild skeletal dysplasia, presents with disproportionate short stature and subtle radiological features, often overlapping with achondroplasia and other dysplasias. Radiographic skeletal surveys are the primary diagnostic tool, revealing shortened long bones, narrowed lumbar interpedicular distances, and squared ilia. Prenatal ultrasound aids early detection, though definitive diagnosis is challenging due to phenotypic variability and the absence of a pathognomonic sign. This pictorial review synthesizes HCH’s imaging features in a single patient, emphasizing differentiation through illustrative figures and diagnostic pearls, guiding radiologists in accurate diagnosis and management.