P339: Four infants with genetic variants previously associated with lethal osteogenesis imperfecta who survived the neonatal period: A case series
Osteogenesis imperfecta (OI) has clinical manifestations that include risk of fractures, hearing loss and dentinogenesis imperfecta and is primarily caused by pathogenic variants in COL1A1 or COL1A2. The clinical classification for type 1 collagen related OI lists four major types, with type I as mild, type II as perinatal lethal, type III as severe/progressive and type IV as moderate. While genotype/phenotype correlations are established, phenotypic variability exists making counseling on prognosis challenging.
Authors
- Margaret M. Chou (ORCID: https://orcid.org/0009-0006-7209-8459)
- Ricki Carroll (ORCID: https://orcid.org/0000-0002-9221-4879)
- Megan Raymond
- Jeffrey W. Campbell (ORCID: https://orcid.org/0000-0001-7694-9931)
- Sebastian Bonner
- Joanna Costa (ORCID: https://orcid.org/0000-0003-3340-1137)
- Jeanne M. Franzone (ORCID: https://orcid.org/0000-0003-4076-6601)
- Mahim Jain
- Andrea Schelhaas
- Sarah Little (ORCID: https://orcid.org/0000-0002-0937-2869)
- Debbie Willis
- Tina McGreal
Institutions
- Thomas Jefferson University (US)
- Nemours Children's Health System (US)
- Children's Hospital (TN)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102304
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00