Osteogenesis imperfecta type XXIII (OI23) is a mild recessive form of OI, characterized by osteopenia with or without recurrent fractures, platyspondyly, short and bowed long bones, and widened metaphyses. Metaphyseal and vertebral changes regress after early childhood; osteopenia persists, but responds well to bisphosphonate (Tuysuz et al., 2023). [from OMIM]
- MedGen UID:
- 1846121
- •Concept ID:
- C5882757
- •
- Disease or Syndrome