2014
DOI: 10.1515/crpm-2013-0057
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First trimester three-dimensional ultrasonographic diagnosis of diastrophic dysplasia: a case report and review of the literature

Abstract: Diastrophic dysplasia is a rare genetic disorder characterized by short limbs and deformities of several joints occurring in conjunction with xyphoscoliosis, distinctive abduction of the first metacarpals (hitchhiker thumbs). A 28-year-old pregnant patient was referred due to detection of increased nuchal translucency at the firsttrimester scan. We describe a case of diastrophic dysplasia diagnosed by two-and three-dimensional ultrasound and termination of pregnancy at 13 weeks of gestation. This case is the f… Show more

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