Objective: To describe the sonographic features of diastrophic dysplasia in 2 second-trimester index offspring.
Methods: Real-time sonography was performed on 2 second-trimester fetuses with no risk factors for skeletal dysplasia.
Results: Each fetus had severe bilateral upper and lower extremity long bone shortening, hitchhiker thumbs and great toes, and clubbed feet, indicating a diagnosis of diastrophic dysplasia.
Conclusions: Index cases of diastrophic dysplasia may be correctly diagnosed on the basis of second-trimester sonography.