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.
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.
Authors: Elka Miller; Susan Blaser; Stephen Miller; Sarah Keating; Megan Thompson; Sheila Unger; Ants Toi; Howard Berger; Karen Chong Journal: Pediatr Radiol Date: 2008-08-21