Evidence map›Paper›PMID 36814711›Full record

ArticleClinical case reports2023

Keeping you on your toes: Smith-Lemli-Opitz Syndrome is an easily missed cause of developmental delays.

Simone Coupe, Ashley Hertzog, Carolyn Foran, Adviye Ayper Tolun, Megan Suthern, Clara W T Chung, Carolyn Ellaway

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

Article in Clinical case reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.6field-weighted citation impact, top 31% 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

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Article
  3. 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

7 authors at 4 institutions in 1 country.

Simone CoupeNSW Biochemical Genetics Service The Children's Hospital at Westmead Westmead New South Wales Australia.
Ashley HertzogNSW Biochemical Genetics Service The Children's Hospital at Westmead Westmead New South Wales Australia.
Carolyn ForanNSW Biochemical Genetics Service The Children's Hospital at Westmead Westmead New South Wales Australia.ORCID https://orcid.org/0000-0002-2507-9961
Adviye Ayper TolunNSW Biochemical Genetics Service The Children's Hospital at Westmead Westmead New South Wales Australia.
Megan SuthernPaediatric Department Wagga Wagga Base Hospital Wagga Wagga New South Wales Australia.
Clara W T ChungDepartment of Clinical Genetics Liverpool Hospital Liverpool New South Wales Australia.
Carolyn EllawayFaculty of Medicine and Health University of Sydney Westmead New South Wales Australia.
The University of Sydney · AUChildren's Hospital at Westmead · AULiverpool Hospital · AUUNSW Sydney · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Smith-Lemli-Opitz syndrome (SLOS) is a relatively common genetic cause of developmental delay and may only present in conjunction with 2,3 toe syndactyly. This case series illustrates a milder phenotype of SLOS, where the predominant findings are neurocognitive in the presence of 2,3 toe syndactyly.

Indexed as

7‐Dehydrocholesterolbiochemical geneticsdiagnosismetabolismsmith–lemli–opitz syndrome

Identifiers

PMID36814711
PMCPMC9939576
OpenAlexW4321379040

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.