What is the characteristic clinical phenotype of osteogenesis imperfecta?
OI has a wide clinical severity spectrum (Type I-XIII per pubmed:29285457) — a complete answer should note this range, not describe a single uniform presentation.
Generation outcome
Gold documents (3)
- Current Overview of Osteogenesis Imperfecta.
- Osteogenesis Imperfecta.
- Osteogenesis Imperfecta and hearing loss in the paediatric population.
Retrieved documents (6)
- Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V.pubmed:30593885
- Radiographic features of osteogenesis imperfecta.pubmed:23686748
- Osteogenesis imperfecta.pubmed:18328983
- Total knee arthroplasty in osteogenesis imperfecta.pubmed:31286040
- Osteogenesis imperfecta. Report of 15 Cases.pubmed:30017614
- Osteogenesis Imperfecta: A Case Series and Literature Review.pubmed:36819366
Generated claims (5)
Osteogenesis Imperfecta is a heritable disorder characterized by bone fragility and low bone mass.
The condition presents with multiple fractures throughout the years followed by bone deformity and articular instability.
Osteogenesis Imperfecta has various clinical presentations and is associated with a wide spectrum of clinical expression.
The main radiographic features of OI are osteopenia, bone fractures, and bone deformities.
Osteogenesis Imperfecta type V is associated with missing permanent teeth, especially permanent premolars, and a bimaxillary retrusive malocclusion with reduced lower face height.