Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound

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 t...

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Detalles Bibliográficos
Autores principales: Jeppesen, Bolette F., Hove, Hanne B., Kreiborg, Sven, Hermann, Nuno V., Darvann, Tron A., Jørgensen, Finn Stener
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494388/
https://www.ncbi.nlm.nih.gov/pubmed/28680597
http://dx.doi.org/10.1002/ccr3.784
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author Jeppesen, Bolette F.
Hove, Hanne B.
Kreiborg, Sven
Hermann, Nuno V.
Darvann, Tron A.
Jørgensen, Finn Stener
author_facet Jeppesen, Bolette F.
Hove, Hanne B.
Kreiborg, Sven
Hermann, Nuno V.
Darvann, Tron A.
Jørgensen, Finn Stener
author_sort Jeppesen, Bolette F.
collection PubMed
description 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.
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spelling pubmed-54943882017-07-05 Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound Jeppesen, Bolette F. Hove, Hanne B. Kreiborg, Sven Hermann, Nuno V. Darvann, Tron A. Jørgensen, Finn Stener Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2017-05-16 /pmc/articles/PMC5494388/ /pubmed/28680597 http://dx.doi.org/10.1002/ccr3.784 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Jeppesen, Bolette F.
Hove, Hanne B.
Kreiborg, Sven
Hermann, Nuno V.
Darvann, Tron A.
Jørgensen, Finn Stener
Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound
title Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound
title_full Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound
title_fullStr Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound
title_full_unstemmed Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound
title_short Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound
title_sort prenatal diagnosis of autosomal recessive robinow syndrome using 3d ultrasound
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494388/
https://www.ncbi.nlm.nih.gov/pubmed/28680597
http://dx.doi.org/10.1002/ccr3.784
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