EC Orthopaedics

Osteogenesis imperfecta (OI), considered an orphan disease, is characterized by mutations in the genes that encode collagen proteins, especially type I. It is manifested by skeletal and extra skeletal clinical manifestations and in some cases it can present from the prenatal stage with severe compromise, which requires early diagnosis to provide timely and targeted treatment to reduce the morbidity and mortality of this pathology. We describe the clinical case of a patient with genetic confirmation of osteogenesis imperfecta carrying a rare mutation in the COLA1 gene.

Keywords: Osteogenesis; Bisphosphonates; Genetics; Rare Diseases; Collagen

1. BouTorrent R. “Osteogénesis imperfecta”. Protocolos diagnósticos y terapéuticos en Pediatría 2 (2020): 349-359.
2. JC Duró Pujol. “Enfermedades hereditarias del tejido conectivo”. In: Farreras Rozman Medicina Interna (2020): 1001-1003.
3. Arundel P and Bishop N. “Diagnosing osteogenesis imperfecta”. Paediatrics and Child Health5 (2010): 225-231.
4. Balasubramanian AM. “Osteogenesis imperfecta: An overview”. UpToDate (2023): 1-41.
5. Ma Pilar Gutiérrez-Díez., et al. “Osteogénesis imperfecta: nuevas perspectivas”. Revista Española Endocrinología Pediátrica 4 (2013): 107-117.
6. Harrington J., et al. “Update on the Evaluation and Treatment of Osteogenesis Imperfecta”. Pediatric Clinics of North America6 (2014): 1243-1257.
7. Mortier GR., et al. “Nosology and classification of genetic skeletal disorders: 2019 revision”. American Journal of Medical Genetics Part A12 (2019): 2393-2419.
8. Trejo P and Rauch F. “Osteogenesis imperfecta in children and adolescents - new developments in diagnosis and treatment”. Osteoporosis International 27 (2016): 3427-3437.
9. Moreta H., et al. “Osteogénesis Imperfecta”. RECIMUNDO2 (2019): 915-933.
10. Steiner RD and Basel D. “COL1A1/2 Osteogenesis Imperfecta”. En: GeneReviews. Seattle: University of Washington (2020).