Bathrocephaly and Serpentine Fibula as Underrated Features of Osteogenesis Imperfecta Type I: A Case Report
Bathrocephaly and serpentine fibula are rarely reported in classical OI types and are more frequently associated with other skeletal dysplasias, such as Hajdu-Cheney syndrome. This case report highlights the importance of recognizing underrated manifestations in OI and underscores the need for molecular confirmation.
Authors
- Tatiana Ferreira de Almeida (ORCID: https://orcid.org/0000-0001-9897-6658)
- Carlos Eduardo Steiner (ORCID: https://orcid.org/0000-0001-5148-3063)
- Ruy Pires de Oliveira Sobrinho (ORCID: https://orcid.org/0000-0002-5292-2344)
- Felício de Freitas Netto
Institutions
- Hospital Israelita Albert Einstein (BR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2025-11-28
- DOI
- https://doi.org/10.1159/000549437
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00