Abstract
Osteogenesis imperfecta (OI) also called brittle bone disease is a rare genetic disorder that results from a defect in type 1 collagen, which is a main structural protein involved in the structure of bones, tendons, ligaments, the dentin layer of teeth, and the sclera of the eye. The defect in this gene is known to be a predisposing factor to fractures. The deficiency in type 1 collagen can be either qualitative or quantitative. Due to this deficiency, the bones become so fragile and can break easily with minimal trauma, which can be coined as “imperfect bone formation.” It also leads to bruises due to the extravasation of blood in the connective tissue of the skin. Sometimes, fractures may result from the routine handling of parents. It can be misleading since fractures are considered to be the second most common sign of child abuse according to the literature. One of the main duties in forensic medicine is examining live victims, which plays a crucial role in confirming a clinical diagnosis. In this paper, a review of the literature was conducted and a summary of reported cases of osteogenesis imperfecta, which were initially diagnosed as child abuse, is presented.
The aim of this study was to review the literature for the prevalence of misdiagnosed cases of osteogenesis imperfecta as child abuse, analyzing various types of presentations in osteogenesis imperfecta that might lead a physician to a wrong diagnosis of child abuse and to clarify common findings and fracture sites seen among patients with osteogenesis imperfecta. The literature review was conducted for both conditions, osteogenesis imperfecta and child abuse, and an evaluation and analysis of case reports and case series regarding osteogenesis imperfecta cases misdiagnosed as child abuse utilizing the PubMed search engine.
Unexplained fractures in children validate the consideration of osteogenesis imperfecta and child physical abuse. A thorough and careful evaluation is recommended as soon as possible because a delay can result in psychological consequences for both the child and the family.