New Phenotypic Features in <i>FGFR1</i>‐Related Osteoglophonic Dysplasia
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.
Authors
- Corey S. Gill
- Amna Othman (ORCID: https://orcid.org/0000-0001-7309-7243)
- Debra S. Regier (ORCID: https://orcid.org/0000-0001-7525-0088)
- Kara Simpson (ORCID: https://orcid.org/0000-0001-7950-5703)
- Jamie L. Fraser (ORCID: https://orcid.org/0000-0002-7794-8903)
- Rajdeep Kaur (ORCID: https://orcid.org/0009-0007-7587-7228)
- Holly E. Babcock
- Carlos R. Ferreira
Institutions
- National Institutes of Health (US)
- Children's National (US)
- Texas Scottish Rite Hospital for Children (US)
- National Human Genome Research Institute (US)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (US)
- The University of Texas Southwestern Medical Center (US)
Publication Details
- Journal
- American Journal of Medical Genetics Part A
- Published
- 2025-04-22
- DOI
- https://doi.org/10.1002/ajmg.a.64092
- Primary Topic
- Fibroblast Growth Factor Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Institutes of Health
- National Institute of Child Health and Human Development
- Eunice Kennedy Shriver National Institute of Child Health and Human Development