Evidence map›Paper›PMID 36568675›Full record

ArticleHeliyon2022

Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract.

Flavien Rouxel, Julien Fauré, Jean-Michel Faure, Françoise Deschamps, Gilles Burlet, Anaig Flandrin, Alain Couture, Olivier Prodhomme, John Rendu, Marjolaine Willems

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Heliyon, 2022. 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
0.3field-weighted citation impact, top 47% of its field
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, 3 citations in OpenAlex.

  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

10 authors at 3 institutions in 1 country.

Flavien RouxelDepartment of Medical Genetics, Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI-RARE, Montpellier University, Centre Hospitalier Montpellier, 34090 Montpellier, France.
Julien FauréUniv. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, GIN, France.
Jean-Michel FaureDepartement of obstetrics and gynecology, CHRU Montpellier, France.
Françoise DeschampsDepartement of obstetrics and gynecology, CHRU Montpellier, France.
Gilles BurletDepartement of obstetrics and gynecology, CHRU Montpellier, France.
Anaig FlandrinDepartement of obstetrics and gynecology, CHRU Montpellier, France.
Alain CoutureDepartment of Pediatric Radiology, CHRU Montpellier, France.
Olivier ProdhommeDepartment of Pediatric Radiology, CHRU Montpellier, France.
John RenduUniv. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, GIN, France.
Marjolaine WillemsDepartment of Medical Genetics, Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI-RARE, Montpellier University, Centre Hospitalier Montpellier, 34090 Montpellier, France.
Centre Hospitalier Universitaire de Montpellier · FRInserm · FRUniversité de Montpellier · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Lowe syndrome is a rare disease characterized by the association of congenital cataract, hypotonia, followed by global psychomotor delay and intellectual disability, as well as progressive renal dysfunction, and renal failure occurring at around 20 years of age. Case presentation: We discuss the case of a male fetus diagnosed with isolated bilateral cataract on the sonography performed at 21 + 5 weeks of gestation, confirmed by a fetal MRI at 23 weeks of gestation.After ruling out infectious etiologies, a genetic consult was conducted at 26 weeks of gestation, and an amniocentesis was realized to search for a chromosomal cause, Norrie's disease and Lowe syndrome by Sanger analysis. A c.1351G > A (p.Asp451Asn) hemizygous mutation in Conclusions: This is the first case of Lowe syndrome diagnosed prenatally on an isolated cataract, which allows the discussion of a more extensive etiological research when a male fetus is diagnosed with isolated bilateral cataract, by including notably a systematic analysis of the

Indexed as

FetusIsolated cataractLowe syndromeOCRLX-linked

Identifiers

PMID36568675
PMCPMC9768307
OpenAlexW4311400664

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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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.