Osteogenesis imperfecta (OI) or "brittle bone disease" is a rare connective tissue hereditary disorder. The most common clinical presentation of OI is bone fractures. OI also involves extraskeletal structures; however, cardiovascular manifestations are rare. In this report, we describe the cardiovascular anomalies of patients with OI who underwent valve surgery and review the literature on this subject.
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http://dx.doi.org/10.1111/jocs.12064 | 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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