Case of Imperfect Osteogenesis
نویسندگان
چکیده
منابع مشابه
A case of atypical family form of imperfect osteogenesis (osteogenesis imperfecta)
This article presents an example of prenatal diagnosis of the IIA (lethal) form of imperfect osteogenesis during the second trimester screening examination. At the parents examination external signs of dysembryogenesis in the father are noticed. The further studying of the case allowed to draw the conclusions about the family form of imperfect osteogenesis when the father of a fetus had mild – ...
متن کاملA Case of Osteogenesis Imperfecta (Fragilitas Ossium)
A girl, N. G., aged 8 years, reported for a radiologic^ 'examination of her right forearm and wrist. The history given was that the child had slipped and fallen on her hand, an accident which the parents witnessed and which, in their opinion, was quite a trivial injury and out of proportion to the deformity of the hand caused by it. , On rr-ray examination it was found that she hacI sustained a...
متن کاملIdentification of gene mutation in patients with osteogenesis imperfect using high resolution melting analysis
Osteogenesis imperfecta (OI), a congenital bone disorder, is caused by mutations in COL1A1 and COL1A2 genes, leading to deficiency of type I collagen. The high resolution melting (HRM) analysis has been used for detecting mutations, polymorphisms and epigenetic alteration in double-stranded DNAs. This study was to evaluate the potential application of HRM analysis for identifying gene mutations...
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employees always concern about losing their job , or in other word , losing their income resources. for this purpose, every government requires strong system for covering these concerns. the unemployment insurance (ui) program’s can be used for achieving this goal. in this thesis, we price ui based on the insurance history of employee and the duration of being unemployed. we use the weibull dis...
[Epidemiology of Imperfect Osteogenesis: a Rare Disease in the Valencia Region.]
OBJECTIVE Osteogenesis imperfecta (OI) is a rare connective tissue and bone disease that results in a bone fragility of varying severity. The objective was to determine and describe the OI in the Valencia Region (VR) during the period 2004 to 2014. METHODS From the Rare Diseases Information System of the VR (SIER-CV) patients from 2004 to 2014 with the codes of the International Classificatio...
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ژورنال
عنوان ژورنال: Proceedings of the Royal Society of Medicine
سال: 1911
ISSN: 0035-9157
DOI: 10.1177/003591571100400237