Imaging Findings in Osteogenesis Imperfecta
نویسندگان
چکیده
منابع مشابه
Audiological findings in osteogenesis imperfecta.
BACKGROUND Osteogenesis imperfecta (OI) is an inherited bone and connective tissue disorder associated with the lifelong occurrence of frequent fractures following even mild trauma. Hearing loss is frequently reported in patients with OI. PURPOSE This investigation is a retrospective study of measurements of tympanometry, acoustic reflexes, and transient evoked otoacoustic emissions in a samp...
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We describe the prenatal magnetic resonance imaging (MRI) findings in a 25-week-old fetus with proven osteogenesis imperfecta type II. Fetal MRI findings are correlated with prenatal ultrasonography, conventional x-ray fetography and postpartal findings. Fetal MRI proves to be superior to conventional fetography in the evaluation of the skeletal findings. The high soft tissue resolution, the la...
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Osteogenesis imperfecta (OI) is a genetic disorder of increased bone fragility and low bone mass. Severity varies widely, ranging from intrauterine fractures and perinatal lethality to very mild forms without fractures. Most patients with a clinical diagnosis of OI have a mutation in the COL1A1 or COL1A2 genes that encode the a chains of type I procollagen, the major protein in bones. Hence, th...
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Osteogenesis imperfecta (OI) is a hereditary disorder characterized by increased tendency for bone fractures due to high fragility. The clinical and radiological features of OI manifest in different age groups, although the disease is congenital in nature. Besides bone fragility, features like laxity of the ligaments, blue sclera, growth retardation, and scoliosis are also observed. In severe c...
متن کاملOsteogenesis imperfecta
Keywords Disease name and synonyms Definition/Diagnosis criteria Differential diagnosis Frequency Clinical description Etiology Diagnostic methods Management Treatment Genetic counselling References Abstract Osteogenesis imperfecta (OI) is a group of inherited diseases responsible for varying degrees of skeletal fragility. Minimal trauma is sufficient to cause fractures and bone deformities. A ...
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ژورنال
عنوان ژورنال: Clinical & Biomedical Research
سال: 2017
ISSN: 2357-9730
DOI: 10.4322/2357-9730.73847