Evidence map›Paper›PMID 40600006›Full record

ArticleAustralasian journal of ultrasound in medicine2025

Vertebral Bone Density Abnormalities in Fetal Ultrasound: A Distinctive Clinical Sign of Spondylocarpotarsal Synostosis Syndrome

Immacolata Blasi, Marzia Pollazzon, Stefano Giuseppe Caraffi, Roberta Zuntini, Giuseppina Comitini, Maria Paola Bonasoni, Jessica Daolio, Sheila Unger, Lorenzo Aguzzoli, Andrea Superti-Furga and 1 more

Abstract read
In one paragraph

Article in Australasian journal of ultrasound in medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Immacolata BlasiDepartment of Obstetrics and Gynecology Azienda USL-IRCCS di Reggio Emilia Reggio Emilia Italy.ORCID https://orcid.org/0009-0002-3067-9301
Marzia PollazzonMedical Genetics Unit Azienda USL-IRCCS di Reggio Emilia Reggio Emilia Italy.
Stefano Giuseppe CaraffiMedical Genetics Unit Azienda USL-IRCCS di Reggio Emilia Reggio Emilia Italy.
Roberta ZuntiniMedical Genetics Unit Azienda USL-IRCCS di Reggio Emilia Reggio Emilia Italy.
Giuseppina ComitiniDepartment of Obstetrics and Gynecology Azienda USL-IRCCS di Reggio Emilia Reggio Emilia Italy.
Maria Paola BonasoniPathology Unit Azienda USL-IRCCS di Reggio Emilia Reggio Emilia Italy.
Jessica DaolioQuality and Accreditation Office, Medical Directorate Azienda USL-IRCCS di Reggio Emilia Reggio Emilia Italy.
Sheila UngerGenetica AG Zurich and Lausanne Switzerland.
Lorenzo AguzzoliDepartment of Obstetrics and Gynecology Azienda USL-IRCCS di Reggio Emilia Reggio Emilia Italy.ORCID https://orcid.org/0000-0002-0723-151X
Andrea Superti-FurgaGenetica AG Zurich and Lausanne Switzerland.
Livia GaravelliMedical Genetics Unit Azienda USL-IRCCS di Reggio Emilia Reggio Emilia Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Ultrasound diagnosis of fetal skeletal conditions remains challenging. Key Findings: We describe a case in which prenatal ultrasonography detected abnormal bone density in the fetal spine. The fetus showed abnormal spinal segmentation, characterised by demineralisation and lacunar morphological tracts. x-rays and histological examination confirmed the ultrasonographic findings. We describe a unique ultrasonographic phenotype of fetal spine that has not yet been described in the literature. This is likely associated with two Discussion: Fetal ultrasound, together with radiological investigations, clinical examination of the fetal phenotype and histological investigations are essential in directing molecular genetic testing to identify rare diseases. We review the literature and describe a prenatal case with abnormal bone density in the spine. Whole-exome sequencing (WES) analysis in the fetus was performed to explore variants compatible with ultrasound signs.

Indexed as

demineralisationfetal ultrasoundMYH3prenatal diagnosisskeletal dysplasia

Identifiers

PMID40600006
PMCPMC12206849

What OpenQuestion holds

Textmetadata
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.