Second-trimester sonographic diagnosis of diastrophic dysplasia: report of 2 index cases. |
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| Authors: | Joseph R Wax Molly Carpenter Wendy Smith Charles Grimes Michael G Pinette Jacquelyn Blackstone Angelina Cartin |
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| Affiliation: | Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Maine Medical Center, Portland, Maine, USA. waxj@mmc.org |
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| 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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| Keywords: | diastrophic dysplasia prenatal diagnosis skeletal dysplasia sonography |
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