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 first-trimester 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 first report in the literature in which 3D ultrasound was used in diagnosis of diastrophic dysplasia as early as the 13th week of pregnancy. We think that prenatal diagnosis of diastrophic dysplasia can be possible even at first trimester.
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Erschienen in
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First trimester three-dimensional ultrasonographic diagnosis of diastrophic dysplasia: a case report and review of the literature ; volume:3 ; number:2 ; year:2014 ; pages:137-141 ; extent:5
Case reports in perinatal medicine ; 3, Heft 2 (2014), 137-141 (gesamt 5)
- Urheber
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Ozyuncu, Ozgur
Turgal, Mert
Yazicioglu, Aslihan
- DOI
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10.1515/crpm-2013-0057
- URN
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urn:nbn:de:101:1-2411121509265.461471852638
- Rechteinformation
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
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15.08.2025, 07:28 MESZ
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Beteiligte
- Ozyuncu, Ozgur
- Turgal, Mert
- Yazicioglu, Aslihan
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