Category Ranking

98%

Total Visits

921

Avg Visit Duration

2 minutes

Citations

20

Article Abstract

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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11616087PMC
http://dx.doi.org/10.1016/j.crwh.2024.e00666DOI Listing

Publication Analysis

Top Keywords

osteogenesis imperfecta
12
vertebral compression
8
compression fracture
8
postpartum multiple
4
multiple vertebral
4
vertebral fractures
4
fractures patient
4
patient osteogenesis
4
imperfecta type
4
type case
4

Similar Publications

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 PDF

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 PDF

Purpose: 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.

View Article and Find Full Text PDF

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).

View Article and Find Full Text PDF