Evidence map›Paper›PMID 39708391›Full record

ArticleMolecular genetics and metabolism2025

Clinical and biochemical footprints of inherited metabolic diseases: XVII. Dysmorphisms.

Carol L Greene, Sofia Saenz-Ayala, Erin T Strovel, Francis Rossignol, Carlos R Ferreira, Nenad Blau

Abstract read
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In one paragraph

Article in Molecular genetics and metabolism, 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. Review
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

6 authors.

Carol L GreeneUniversity of Maryland School of Medicine, Department of Pediatrics, Division of Genetics, Baltimore, MD 21201, USA. Electronic address: carol.greene@som.umaryland.edu.
Sofia Saenz-AyalaUniversity of Maryland School of Medicine, Department of Pediatrics, Division of Genetics, Baltimore, MD 21201, USA.
Erin T StrovelUniversity of Maryland School of Medicine, Department of Pathology, Baltimore, MD, USA.
Francis RossignolNIH Undiagnosed Diseases Program, Rockville, MD, USA.
Carlos R FerreiraNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: carlos.ferreira@nih.gov.
Nenad BlauDivision of Metabolism, University Children's Hospital Zürich, Zurich, Switzerland. Electronic address: nenad.blau@kispi.uzh.ch.

Funding

Skeletal GenomicsZIAHG200407 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI FERREIRA, CARLOS · 2020 to 2024
$3.7M
Intramural NIH HHS Z99 HD999999Intramural NIH HHS ZIA HG200407
6 · The paper itself

Abstract

Dysmorphisms, or physical abnormalities in appearance, can vary in frequency and severity among individuals with inherited metabolic disorders (IMD). The prevalence of dysmorphisms in these disorders can range from rare occurrences to more common features, depending on the specific disorder and its genetic characteristics. It is important to note that not all individuals with IMDs will exhibit dysmorphic features, and the presence of such features may vary widely among different types of metabolic disorders. The data presented in this study, which includes a detailed list of 374 IMDs with dysmorphic characteristics categorized by affected organs (such as head and face, nose, mouth and tongue, eye, ear, hands and feet, and others), as well as an overview of important clinical features and recommended diagnostic strategies, could be valuable for professionals in the field of healthcare. This information may be particularly useful for healthcare providers who treat individuals with metabolic disorders or those who care for individuals exhibiting dysmorphic features that could indicate the presence of an inherited metabolic disorder.

Indexed as

Metabolism, Inborn ErrorsHumansMetabolic DiseasesPhenotypeDysmorphic featuresIEMIMDMorphology

Identifiers

PMID39708391
PMCPMC11808525

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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.