BACKGROUND Osteogenesis imperfecta is a rare inherited connective tissue disorder that is mainly characterized by long bone deformities and increased susceptibility to bone fractures. The aim of this study was to present a surgical technique in a child suffering from osteogenesis imperfecta and progressive, severe bowing deformity of both tibias, as an alternative method to advanced, innovative surgical systems. CASE REPORT A 9-year-old child (male) was referred to our orthopedic clinic for inability to walk independently due to extreme anterior bowing of both tibias. After the diagnosis of osteogenesis imperfecta type III was established, bilateral surgical treatment with multiple osteotomies and intramedullary, flexible Titanium Elastic Nail System (TENS) nails was decided. Six months post-operatively callus formation was obvious in x-rays and at the latest follow-up (1 year post-operatively) the patient regained the ability to walk independently. CONCLUSIONS In types of osteogenesis imperfecta which are characterized by extreme deformities (type III) surgical intervention seems to be the only solution for these patients to walk again. We present a relatively simple technique of correcting such deformities, indicating that no matter which technique will be used (simple or more complicated) the final goal should be to restore the walking ability with as little complications as possible.
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http://dx.doi.org/10.12659/AJCR.918560 | DOI Listing |
Am J Med Genet A
January 2025
Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Philadelphia, Pennsylvania, USA.
We report a 28-year-old G2P0 at 24 weeks 5 days who presented for evaluation secondary to suspected skeletal dysplasia in her fetus. Fetal ultrasound imaging demonstrated foreshortened long bones by 9-10 weeks, multiple bowing deformities and fractures, 11 foreshortened paired ribs with fractures, decreased skull mineralization, frontal bossing, enlarged cavum septum pellucidi, and severe fetal growth restriction (< 2%). Findings were concerning for life limiting condition with thoracic circumference < 2.
View Article and Find Full Text PDFJBMR Plus
February 2025
Department of Pediatric Orthopedic Surgery, Phoenix Children's Hospital, Phoenix, AZ 85016, United States.
Int J Mol Sci
December 2024
Petersburg Nuclear Physics Institute Named by B.P. Konstantinov of National Research Centre «Kurchatov Institute», 188300 Gatchina, Russia.
Bruck syndrome is a rare autosomal recessive disorder characterized by increased bone fragility and joint contractures similar to those in arthrogryposis and is known to be associated with mutations in the () and () genes. These genes encode endoplasmic reticulum proteins that play an important role in the biosynthesis of type I collagen, which in turn affects the structure and strength of connective tissues and bones in the body. Mutations are associated with disturbances in both the primary collagen chain and its post-translational formation, but the mechanism by which mutations lead to Bruck syndrome phenotypes has not been determined, not only because of the small number of patients who come to the attention of researchers but also because of the lack of disease models.
View Article and Find Full Text PDFBiomedicines
November 2024
Pole of Morphology, Institute of Experimental and Clinical Research, UCLouvain, 1200 Brussels, Belgium.
Osteogenesis imperfecta (OI) is a rare genetic disorder affecting mainly type I collagen, which leads to bone fragility and deformities. OI patients also present craniofacial abnormalities such as macrocephaly and malocclusion. Recently, craniofacial dysmorphism was highlighted in the osteogenesis imperfecta mouse (oim), a validated model of the most severe form of OI.
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