Osteogenesis imperfecta in Brazilian patients
نویسندگان
چکیده
منابع مشابه
Molecular findings in Brazilian patients with osteogenesis imperfecta.
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...
متن کاملHearing loss in osteogenesis imperfecta patients
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. Objective: to examine the ratio of hearing loss in children with OI, and the relationship between audiological findings and CT images of temporal bone in children with O...
متن کاملThe Spine in Patients With Osteogenesis Imperfecta.
Osteogenesis imperfecta is a genetic disorder of type I collagen. Although multiple genotypes and phenotypes are associated with osteogenesis imperfecta, approximately 90% of the mutations are in the COL1A1 and COL1A2 genes. Osteogenesis imperfecta is characterized by bone fragility. Patients typically have multiple fractures or limb deformity; however, the spine can also be affected. Spinal ma...
متن کاملPersonalized medicine in patients with Osteogenesis imperfecta
Results With this change of therapy we were able to reduce bone resorption to the normal range [2]. After two years of treatment both patients show an increase of bone mineral density of the lumbar spine with a z-score from – 2.4 to -2.0 and -4.3 to 2.5 respectively and an increase of projected vertebral area L2 – L4 [mm2] from 1670 to 2152 and from 1424 to 1528. No severe side effects were see...
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: Genetics and Molecular Biology
سال: 2019
ISSN: 1678-4685,1415-4757
DOI: 10.1590/1678-4685-gmb-2018-0043