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Surgery on Children

Surgery on Children Journal aims to publish issues related to Pediatric Surgery, Pediatric Neurosurgery, Pediatric Plastic Surgery, Pediatric Cardiovascular Surgery, Pediatric Orthopedic Surgery, Pediatric Vascular Surgery, Pediatric Gynecology and Obstetrics, Pediatric Ear Nose Throat, Ophthalmology, Pediatric Anesthesiology and Reanimation, Pediatric Urology, Pediatric Surgical Intensive Care Clinic, and other clinical surgery fields on children of the highest scientific and clinical value at an international level and accepts articles on these topics.

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Osteogenesis imperfecta - a current overview
Abstract
A genetically diverse condition called osteogenesis imperfecta (OI) is characterized by low bone mass and fragility. Over the past few decades, OI has evolved from an illness lacking a known etiology to one with a well-defined and well-mapped genetic background. Pathogenic mutations in COL1A1/COL1A2 with autosomal-dominant inheritance are linked to most cases of OI. The pathophysiology of OI is now well understood thanks to recent gene discoveries, which has opened up new opportunities for treatment development. The main characteristics of OI patient include short stature, bone abnormalities, and repeated fractures. Joint hypermobility, dentinogenesis imperfecta, blue sclera, hearing loss, and, less frequently, muscle weakness, pulmonary, and cardiovascular problems are examples of extraskeletal symptoms. In addition to pharmaceutical therapy, OI requires interdisciplinary care from orthopedic management, rehabilitation, nutrition, dentistry, and other subspecialties. Although the current pharmacologic therapy for OI does not address the matrix defect that is the main cause of bone fragility, it may enhance bone mass and morphology. To develop treatments that will target the genetic flaw and mechanism causing OI, research is still being done.

Keywords : Bisphosphonates, bone fragility, collagen, multidisciplinary care, osteogenesis imperfecta, recurrent fractures

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Article available in :
Volume 2, Issue 1, 2025
Page : 28-32
https://doi.org/10.51271/SOC-0030
Article Information
Received : 26 Eyl 2024
Accepted : 18 Kas 2024
Published : 20 Oca 2025
Corresponding Author :

Nedim Mujanovic: Department of Orthopedic and Trauma Surgery, Faculty of Medicine, University Medical Centreo, Sarajevo, Bosnia and Herzegovina

[email protected]
Citation : Mujanovic N. Osteogenesis imperfecta-a current overview. Surg Child. 2025;2(1):28-32.

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