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Case Reports
. 2003 Aug;22(8):805-8.
doi: 10.7863/jum.2003.22.8.805.

Second-trimester sonographic diagnosis of diastrophic dysplasia: report of 2 index cases

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Case Reports

Second-trimester sonographic diagnosis of diastrophic dysplasia: report of 2 index cases

Joseph R Wax et al. J Ultrasound Med. 2003 Aug.

Abstract

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.

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