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First trimester three-dimensional ultrasonographic diagnosis of diastrophic dysplasia: a case report and review of the literature

Content Provider	Scilit
Author	Ozyuncu, Ozgur Turgal, Mert Yazicioglu, Aslihan
Copyright Year	2013
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.
Related Links	http://www.degruyter.com/dg/viewarticle.fullcontentlink:pdfeventlink/$002fj$002fcrpm.2014.3.issue-2$002fcrpm-2013-0057$002fcrpm-2013-0057.pdf?t:ac=j$002fcrpm.2014.3.issue-2$002fcrpm-2013-0057$002fcrpm-2013-0057.xml
Ending Page	141
Page Count	5
Starting Page	137
ISSN	21928932
e-ISSN	21928959
DOI	10.1515/crpm-2013-0057
Journal	Case Reports in Perinatal Medicine
Issue Number	2
Volume Number	3
Language	English
Publisher	Walter de Gruyter GmbH
Publisher Date	2013-12-18
Access Restriction	Open
Subject Keyword	Case Reports in Perinatal Medicine Obstetrics and Gynecology Diastrophic Dysplasia Prenatal Diagnosis Three-dimensional Ultrasound Journal: Case Reports in Perinatal Medicine, Vol- 3
Content Type	Text
Resource Type	Article

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