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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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Bibliografiske detaljer
Udgivet i:Clin Case Rep
Main Authors: Hofstaetter, Cornelia, Courage, Carolina, Bartholdi, Deborah, Biskup, Saskia, Raio, Luigi
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2018
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5799658/
https://ncbi.nlm.nih.gov/pubmed/29445489
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1368
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