CHONDRODYSPLASIA PUNCTATA – AN ANTENATAL CASE REPORT

Chondrodysplasia punctata (CDP) represents a heterogeneous group of rare skeletal dysplasias characterized by punctate calcifications in the epiphyseal cartilage, a flat or depressed nasal bridge (Binder's facies or midfacial hypoplasia), and can be associated with other abnormal skeletal findings. The condition may be associated with various genetic mutations and can present in both rhizomelic and non-rhizomelic forms, each with distinct clinical implications or acquired form of CDP that can occur secondary to maternal autoimmune diseases. We report a case of chondrodysplasia punctata diagnosed by ultrasound imaging at 20 weeks' gestation. Imaging features are described and differential diagnosis with other forms of chondrodysplasia punctata is discussed.