释义 |
DictionarySeeosteogenesis imperfectabrittle bones
os·te·o·gen·e·sis im·per·fec·ta (OI), , osteogenesis imperfecta congenitaosteogenesis imperfecta tardaa group of connective tissue disorders of type I collagen, characterized by bone fragility, fractures on trivial trauma, skeletal deformity, blue sclerae, ligament laxity, and hearing loss. The Sillence system, which is a clinical, radiographic, and genetic classification, shows four types; inherited as autosomal dominant, caused by mutation in either the collagen type I alpha-1 gene (COL1A1) on chromosome 17q or the alpha-2 gene (COL1A2) on 7q. Synonym(s): brittle bones(1) Osteogenesis imperfecta (2) Osteoporosisbrittle bones 1. Osteogenesis imperfecta Bones with ↑ osseous fragility, a phenomenon seen in osteogenesis imperfecta, due to genetic defects–eg, point mutation in collagen, type I.2. Osteoporosis, see there.os·te·o·gen·e·sis im·per·fec·ta (OI) (os'tē-ō-jen'ĕ-sis im'pĕr-fek'tă) Abnormal fragility and plasticity of bone, with recurring fractures on trivial trauma; variable associated features include deformity of long bones, blueness of sclerae, laxity of ligaments, and otosclerosis. Synonym(s): brittle bones. brittle bones A popular term usually applied to bones liable to fracture on minimal force because of loss of structural strength from conditions such as OSTEOPOROSIS or the hereditary disease OSTEOGENESIS IMPERFECTA.Patient discussion about brittle bonesQ. is their any way to cure osteogenesis imperfecta my son has this bone disorder and can;t stand to see him cry thank you for any helpA. as far as i know- OI is a genetic problem. today there is no cure to genetic problems. there is a big research on gene therapy but there's a long long road before we will see any result..sorry... but there are several treatments that can ease your son's pain, here is a wonderful site that stores a vast amount of information about IO, including recent studies and researches: http://www.oif.org/site/PageServer
More discussions about brittle bones |