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A 39-year-old woman with type I osteogenesis imperfecta reported experiencing back pain at 35 weeks of gestation. Two days following an elective cesarean section, the patient developed a Th12 vertebral compression fracture; 3 weeks postoperatively, she sustained an L3 vertebral compression fracture. The patient displayed a lumbar spine -score of -1.7; she subsequently discontinued breastfeeding, and treatment with active vitamin D was initiated. Genetic testing confirmed a diagnosis of osteogenesis imperfecta.
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http://dx.doi.org/10.1016/j.crwh.2024.e00666 | DOI Listing |
Curr Sports Med Rep
September 2025
The University of North Carolina at Chapel Hill, Chapel Hill, NC, UNC School of Medicine.
Calcif Tissue Int
September 2025
Department of Endocrinology, Post-Graduate Institute of Medical Education and Research (PGIMER), 001, Nehru Extension Block, Chandigarh, India.
Rare diseases, defined by the 2002 Rare Disease Act, affect fewer than 5 in 10,000 individuals. Rare metabolic bone diseases (MBDs), such as osteogenesis imperfecta, hypophosphatasia, osteopetrosis, and other unclassified disorders, can disrupt bone development and remodeling, posing diagnostic and management challenges. This study analyzed data from the rarembd.
View Article and Find Full Text PDFWorld J Methodol
December 2025
Department of Orthopaedics, All India Institute of Medical Sciences, Rishikesh 249203, Uttarākhand, India.
Skeletal dysplasia includes numerous genetic disorders marked by abnormal bone and cartilage growth, causing various spinal issues. The 2023 nosology identifies 771 distinct dysplasias involving 552 genes, with achondroplasia being the most common and significantly affecting the spine. Other disorders include type II collagenopathies, sulphation defects, Filamin B disorders, and osteogenesis imperfecta, presenting with short stature, limb deformities, joint contractures, and spinal abnormalities.
View Article and Find Full Text PDFPurpose: Osteogenesis imperfecta (OI) is commonly managed with bisphosphonates (BPs) which are associated with significant side effects. This study aimed to investigate intramedullary sclerosis as a potential side effect of prolonged BP use in paediatric patients.
Methods: Thirteen children with OI underwent surgery at our hospital.
Cleft Palate Craniofac J
September 2025
Department of Community and Preventive Dentistry, School of Dentistry, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
To compare the prevalence of malocclusion and the facial profile of children/adolescents with rare genetic diseases-mucopolysaccharidosis (MPS) and osteogenesis imperfecta (OI) with normotypical children/adolescents.Cross-sectional study.Hospital outpatient clinics in 5 Brazilian states (Ceará, Espírito Santo, Minas Gerais, Rio de Janeiro, and São Paulo).
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