Evidence map›Paper›PMID 38453218›Full record

ArticleBMJ case reports2024

Severe skeletal dysplasia caused by a novel FLNB gene mutation.

Ichchha Madan, Frank Jackson, Simran Sahni, Reinaldo Figueroa

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMJ case reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

4 authors.

Ichchha MadanGynecology and Obstetrics, Johns Hopkins University, Baltimore, Maryland, USA.
Frank JacksonObstetrics and Gynecology, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Hempstead, New York, USA.
Simran SahniTouro College of Osteopathic Medicine, Middletown, New York, USA.
Reinaldo FigueroaObstetrics and Gynecology, Trinity Health of New England, Hartford, Connecticut, USA rfiguero@trinityhealthofne.org.ORCID http://orcid.org/0000-0002-1134-9967

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A late adolescent primigravida was found to have a fetus with a cystic hygroma and significant shortening of the limbs on first-trimester ultrasound. She underwent chorionic villus sampling with normal microarray result. In the early second trimester, the fetus was found to have the absence of all four limbs and a thorough skeletal dysplasia workup was pursued, identifying a variant in the FLNB gene (c.62C>G). The patient underwent termination of pregnancy. The care of this patient was expedited by first-trimester sonographic evidence of limb abnormalities enabling timely clinical management.

Indexed as

Fetal DiseasesLymphangioma, CysticOsteochondrodysplasiasAdolescentFemaleFilaminsHumansMutationPregnancyPregnancy Trimester, FirstUltrasonographyUltrasonography, PrenatalFilaminsFLNB protein, humanGeneticsMaterno-fetal medicinePregnancyUltrasonography

Identifiers

PMID38453218
PMCPMC10921501

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.