Prenatal diagnosis of chondrodysplasia punctata by sonography

The rhizomelic form of chondrodysplasia punctata is a lethal autosomal recessive disorder of unknown cause. It is characterized by marked shortening and bowing of the proximal limbs, vertebral column abnormalities, eye and skin defects, severe mental retardation, and recurrent infection. Previously, antenatal diagnosis of this condition was made by radiography. We describe ultrasonographic findings, specifically stippling of the proximal humerus, which permitted us to identify the condition in a fetus at 28 weeks' gestation.