Evidence map›Paper›PMID 40260920›Full record

ArticleAmerican journal of medical genetics. Part A2025

New Phenotypic Features in FGFR1-Related Osteoglophonic Dysplasia.

Amna A Othman, Holly E Babcock, Corey S Gill, Jamie L Fraser, Debra S Regier, Rajdeep Kaur, Kara L Simpson, Carlos R Ferreira

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

Article in American journal of medical genetics. Part A, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Review
  2. Review
  3. Review
  4. 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

8 authors.

Amna A OthmanNational Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.ORCID 0000-0001-7309-7243
Holly E BabcockNational Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Corey S GillDepartment of Orthopedic Surgery, University of Texas Southwestern Medical Center and Scottish Rite for Children, Dallas, Texas, USA.
Jamie L FraserPrenatal Pediatrics Institute, Children's National Hospital, Washington, DC, USA.
Debra S RegierDivision of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.
Rajdeep KaurUnit on Skeletal Genomics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Kara L SimpsonDivision of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.
Carlos R FerreiraUnit on Skeletal Genomics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.

Funding

Skeletal and Metabolic Translational MedicineZIAHD009024 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI FERREIRA, CARLOS · 2025 to 2025
$2.5M
Intramural NIH HHS ZIA HD009024NIH HHS ZIA HD009024
6 · The paper itself

Abstract

Osteoglophonic dysplasia (OGD) is a rare skeletal disorder caused by certain variants in FGFR1. The FGFR1 gene encodes a receptor vital for osteogenesis in the axial and craniofacial skeleton. Key OGD features include craniosynostosis, craniofacial dysmorphism, impacted teeth, rhizomelic shortening, and nonossifying fibromas. Patients may have hypophosphatemia due to high FGF23 levels. We report two OGD patients with the c.1141T > C FGFR1 variant [p.(Cys381Arg)], initially diagnosed with Pfeiffer syndrome. Both showed classic symptoms as well as signs not previously reported, including elevated frontal temperature and overlapping toes. This report emphasizes distinguishing OGD from similar disorders and expanding the clinical phenotype.

Indexed as

Bone Diseases, DevelopmentalPhenotypeReceptor, Fibroblast Growth Factor, Type 1ChildChild, PreschoolFemaleFibroblast Growth Factor-23HumansMaleMutationFGF23 protein, humanFGFR1 protein, humanFibroblast Growth Factor-23Receptor, Fibroblast Growth Factor, Type 1craniosynostosisFGFR1hypophosphatemiaimpacted teethnonossifying fibromasosteoglophonic dysplasiaskeletal dysplasia

Identifiers

PMID40260920
PMCPMC12339206

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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.