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Fetal Diagn Ther. 2004 May-Jun;19(3):241-5.

Nuchal translucency and ductus venosus blood flow as early sonographic markers of thanatophoric dysplasia. A case report.

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  • 1Department of Obstetrics and Gynecology, University Hospital of S. João, Porto, Portugal.


Thanatophoric dysplasia (TD) is the most frequent form of lethal osteochondrodysplasias. Prenatal diagnosis is commonly accomplished in the second-trimester scan, but occasionally TD may not be clearly distinguished from the other osteochondrodysplasias, with consequent important prognostic implications. However, in order to confirm the diagnosis, complementary radiological, pathological and molecular studies are mandatory. We present a case of TD diagnosed in the late first trimester with the contribution of nuchal translucency combined with ductus venosus blood flow assessment.

Copyright 2004 S. Karger AG, Basel

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