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A Novel Use of Three-dimensional High-frequency Ultrasonography for Early Pregnancy Characterization in the Mouse
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Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound
Bolette F Jeppesen1,2, Hanne B Hove1,3, Sven Kreiborg4,5
1Department of Clinical Genetics Copenhagen University Hospital Rigshospitalet Copenhagen Denmark.
Clinical Case Reports
|July 7, 2017
Abstract:
This article hypothesizes that it is possible to detect and diagnose both the autosomal recessive and dominant forms prenatally using ultrasound. By focusing on the characteristic phenotypical presentation, the examinator is able to diagnose the syndrome prenatally, which is of clinical importance to the parents and counseling for the consideration of terminating the pregnancy.
