Genotype–Phenotype Correlation Insights in a Rare Case Presenting with Multiple Osteodysplastic Syndromes
Our case highlights the rare coexistence of multiple osteodysplastic syndromes in a single patient that may complicate differential diagnosis. Furthermore, this case emphasizes the necessity for early genetic investigation of such complex cases with overlying phenotypic traits, followed by genetic counseling, facilitating orchestration of clinical interventions and allowing prevention and/or prompt management of manifestations.
Authors
- Eva Kassi
- Iphigenia Gintoni (ORCID: https://orcid.org/0009-0004-2561-9595)
- Dimitriοs Vlachakis (ORCID: https://orcid.org/0000-0003-1823-6102)
- George Panagiotis Chrousos (ORCID: https://orcid.org/0000-0002-3098-5264)
- Eleni Papanikolaou (ORCID: https://orcid.org/0000-0002-9008-5823)
- Myrsini Chamakioti (ORCID: https://orcid.org/0000-0002-0065-259X)
- Christos Yapijakis (ORCID: https://orcid.org/0000-0001-6695-186X)
- Eleni Koniari (ORCID: https://orcid.org/0000-0001-5058-9579)
Institutions
- Agricultural University of Athens (GR)
- National and Kapodistrian University of Athens (GR)
- Children's Hospital Agia Sophia (GR)
Publication Details
- Journal
- Genes
- Published
- 2025-07-24
- DOI
- https://doi.org/10.3390/genes16080871
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National and Kapodistrian University of Athens