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  • Title: Second-trimester sonographic diagnosis of diastrophic dysplasia: report of 2 index cases.
    Author: Wax JR, Carpenter M, Smith W, Grimes C, Pinette MG, Blackstone J, Cartin A.
    Journal: J Ultrasound Med; 2003 Aug; 22(8):805-8. PubMed ID: 12901408.
    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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