Osteogénesis imperfecta.
- Cristina Calzado Sanz 1
- María Hernández Requejo 1
- Ancuta María Constantin 1
- Carlos Fernández Lozano 2
- Paula Cristina García Buen 1
- Josué Martín Fuertes 2
- 1 Enfermera en el Hospital General de la Defensa de Zaragoza.
- 2 Enfermero en el Hospital General de la Defensa de Zaragoza.
ISSN: 2660-7085
Year of publication: 2022
Volume: 3
Issue: 1
Type: Article
More publications in: Revista Sanitaria de Investigación
Abstract
Osteogenesis imperfecta (OI) is a genetic disorder characterized by impaired collagen formation, leading to numerous bone fractures and deformities. Frequently this pathology is also accompanied by lung and dental problems, sclerosis, hearing loss and a bluish color in the sclera of the eyes. The diagnosis is clinical, although a differential diagnosis must be made with other bone pathologies that present with a similar clinic. The treatment must be carried out from a multidisciplinary team, and is aimed at the prevention of fractures, rehabilitation, trying to increase bone density and improve the quality of life of patients. The estimated incidence of this pathology is between 1 / 15,000 or 1 / 20,000 live births, which is why it is considered within the group of rare diseases.