Brittle Bone Brothers: Osteogenesis Imperfecta Conventional Serial Case

نویسندگان

چکیده

Osteogenesis Imperfecta is a hereditary connective tissue disorder due to COL1A1/2 mutation causing gene defect encoding proteins metabolize collagen. The skeletal manifestation of OI bone incompetence, hence the name brittle disease. Here we report three cases type IV in adults. Skeletal conventional X-rays were performed all patients and them has similar results such as bowing deformities long bones, old union some non-union fractures with extreme angulation severe osteoporosis. are classified based on structure, sclera colorization, dentinogenesis, functional metabolic genetically. I can live until adults; also, same be found siblings. solely make diagnosis.

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Brittle Bone Disease (Osteogenesis Imperfecta)

Brittle bone disease (Osteogenesis imperfecta first defined by McKusick in 1956, is a disease that causes extremely fragile bones. It is a (OI)), congenital disease meaning that it is present during birth. It is often caused by a defect in the gene that produces type I collagen an important building block of bone and the most abundant protein found in the body. This gene can be affected in many...

متن کامل

Osteogenesis imperfecta, non-accidental injury, and temporary brittle bone disease.

The correct distinction between osteogenesis imperfecta and non-accidental injury (NAI) is an emotive subject upon which the fate of a child can depend. It has been the subject of strongly worded papers and letters by experts. 1-5 Although the frequency, clinical features, and skeletal effects of NAI are not in question, much new knowledge on osteogenesis imperfecta has bypassed the general pae...

متن کامل

Cortical Tissue Porosity of Brittle Osteogenesis Imperfecta Bone

INTRODUCTION There is currently no cure for the skeletal dysplasia osteogenesis imperfecta (OI), a debilitating disease that occurs in approximately 1 in every 20,000 human births. OI is caused by a genetic mutation that results in brittle bones and many fractures. In a mouse model of the disease, oim, we have characterized bone structure using X-ray microtomography, and found that oim bone has...

متن کامل

Osteogenesis imperfecta, non-accidental injury, and temporary brittle bone disease

The correct distinction between osteogenesis imperfecta and non-accidental injury (NAI) is an emotive subject upon which the fate of a child can depend. It has been the subject of strongly worded papers and letters by experts. 1-5 Although the frequency, clinical features, and skeletal effects of NAI are not in question, much new knowledge on osteogenesis imperfecta has bypassed the general pae...

متن کامل

Living with OI = Osteogenesis imperfecta = brittle bone disease

Osteogenesis imperfecta (“OI” or “Brittle bones”) is a rare genetic disorder of the connective tissue characterised by bone fragility. Other symptoms that may occur are: short stature, hearing impairment, skeletal deformities, loose joints or fragile teeth. At present OI cannot be cured. Treatment is aimed at preventing or correcting its symptoms and at the best living conditions possible for O...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Biology, Medicine & Natural Product Chemistry

سال: 2021

ISSN: ['2089-6514', '2540-9328']

DOI: https://doi.org/10.14421/biomedich.2021.101.23-25