ArticleClinical case reports2018
Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report.
Article in Clinical case reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed.
- Successfully Managed Respiratory Insufficiency in a Patient with a Novel Pathogenic Variant of theDiagnostics (Basel, Switzerland) · 2022Article
- Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.Molecular genetics & genomic medicine · 2021Article
- Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report.Clinical case reports · 2018Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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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Registered trials
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