Gallbladder Nail Fungus High Blood Pressure Spondylarthritis Kidney damage Malabsorption Dermatitis Klinefelter syndrome Eczema Mad Cow Candida Testicles

Genetic evaluation of suspected osteogenesis imperfecta (OI)

Source: www.acmg.net
Topic: Osteogenesis imperfecta
Download: Click here!

Sort Desciption: This guideline is designed primarily as an educational resource for medical geneticists and other health care providers to help them provide quality medical genetic services. Osteogenesis imperfecta (OI) is probably the most common genetic form of fracture predisposition. ...

Content Inside:
This guideline is designed primarily as an educational resource for medical geneticists and other health care providers to help them provide quality medical genetic services. Adherence to this guideline does not necessarily assure a successful medical outcome. This guideline should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patients record the rationale for any significant deviation from this guideline. Osteogenesis imperfecta (OI) is probably the most common genetic form of fracture predisposition. The term OI encompasses a broad range of clinical presentations that may be first apparent from early in pregnancies to late in life, reflecting the extent of bone deformity and fracture predisposition at different stages of development or postnatal ages. Depending on the age of presentation, OI can be difficult to distinguish from some other genetic and nongenetic causes of fractures, including nonaccidental injury (abuse). The strategies for evaluation and the testing discussed here provide guidelines for evaluation that should help to distinguish among causes for fracture and bone deformity. OVERVIEW Osteogenesis imperfecta (OI) is an inherited disorder of connective tissue characterized by bone fragility and ...

Name (required)

E-mail (required - never shown publicly)

URI (optional)

Your Comment

Verification Code

© 2007-2009 HealthPDF.org | Design by Ganesh Gunasegaran
Privacy Policy

All files and contents mentioned are the property of their respective owners. This page consists of a compilation of public information, commonly available on the internet, at multiple sites, as well as official websites. No information on this page is guaranteed to be correct, and any data contained here may be erroneous.