Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report

We present a case of diaphanospondylodysostosis (DSD) which showed increased nuchal translucency at 1st trimester and missing ossification of the lower spine, short ribs with posterior gaps, and absent nasal bone in midtrimester. Autopsy revealed additionally bilateral nephroblastomatosis. Molecular...

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Detalles Bibliográficos
Autores principales: Hofstaetter, Cornelia, Courage, Carolina, Bartholdi, Deborah, Biskup, Saskia, Raio, Luigi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5799658/
https://www.ncbi.nlm.nih.gov/pubmed/29445489
http://dx.doi.org/10.1002/ccr3.1368
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author Hofstaetter, Cornelia
Courage, Carolina
Bartholdi, Deborah
Biskup, Saskia
Raio, Luigi
author_facet Hofstaetter, Cornelia
Courage, Carolina
Bartholdi, Deborah
Biskup, Saskia
Raio, Luigi
author_sort Hofstaetter, Cornelia
collection PubMed
description We present a case of diaphanospondylodysostosis (DSD) which showed increased nuchal translucency at 1st trimester and missing ossification of the lower spine, short ribs with posterior gaps, and absent nasal bone in midtrimester. Autopsy revealed additionally bilateral nephroblastomatosis. Molecular genetic analysis showed a new mutation in the BMPER gene.
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spelling pubmed-57996582018-02-14 Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report Hofstaetter, Cornelia Courage, Carolina Bartholdi, Deborah Biskup, Saskia Raio, Luigi Clin Case Rep Case Reports We present a case of diaphanospondylodysostosis (DSD) which showed increased nuchal translucency at 1st trimester and missing ossification of the lower spine, short ribs with posterior gaps, and absent nasal bone in midtrimester. Autopsy revealed additionally bilateral nephroblastomatosis. Molecular genetic analysis showed a new mutation in the BMPER gene. John Wiley and Sons Inc. 2018-01-17 /pmc/articles/PMC5799658/ /pubmed/29445489 http://dx.doi.org/10.1002/ccr3.1368 Text en © 2018 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
Hofstaetter, Cornelia
Courage, Carolina
Bartholdi, Deborah
Biskup, Saskia
Raio, Luigi
Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report
title Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report
title_full Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report
title_fullStr Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report
title_full_unstemmed Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report
title_short Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report
title_sort prenatal diagnosis of diaphanospondylodysostosis (dsd): a case report
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5799658/
https://www.ncbi.nlm.nih.gov/pubmed/29445489
http://dx.doi.org/10.1002/ccr3.1368
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