Diagnosis+and+Treatment

How is it diagnosed and what are the treatments?


 * Diagnosis:**
 * **Prenatal:**Diagnosis of OI types II and III result in fractures which occur in the womb and can be diagnosed using ultrasound (1). One of the earliest signs found in Type II can be found as early as 14 weeks old, including abnormal nuchal translucency which measures the about of space in the tissue of the back of the fetus' neck. If this is forming abnormally, it may result as an increase in fluid and is depicted as a clear space during the ultrasound. Due to the lack of Type one collagen fibers, the bones do not begin to form regularly resulting in abnormalities especially in long bones, ribs and skull which appear more translucent with the possibility of [[image:prescottgenomics/Rod in Long bones.jpg width="204" height="340" align="right" caption="Xray of rods which were placed in the long bones of the legs to aid in the prevention of fractures. Permission acquired by publisher of article written by F.S Dijk et al. (1.)"]] ractures. OI type III can be detected later at 18 weeks with bowing of long bones. This may also be occasional at 20 weeks in Type IV. If OI is detected as a potential, further diagnostic testing can be done which are more invasive by extracting chorion villi cells which can be tested for abnormalities of the formation of Collagen Type 1.
 * **Differential Diagnotics:** Further ultrasound investigation of the cervical spine, scapular, femora and tibiae can help distinguish between differences of OI and hypophosphatasia (1)
 * **Postnatal:** Differential testing is done to rule out other rare conditions such as Bruck Syndrome which has similarities with OI as well as "Nonaccidental" injuries. Nonaccidental injuries occur more frequently than cases of OI (1) and are carefully considered for the safety of the child. The patient's family history will also be considered as OI can be a genetic disorder.
 * Treatments: **
 * Pharmacological Treatment: Bisphosphate therapy is a treatment that can be used for all OI types with various doses of bisphophonates which are administered orally or intravenously. This treatment helps to treat bone mineral density by affecting the formation of osteoclasts and then destroying osteoclasts. In the less severe types with short heights, growth hormones can be used as treatment
 * Orthopedic Treatment: Intramedullary rods, which are inserted into bone marrow, can be used in OI types which result in bones which are susceptible breakage or have become deformed. This is often found in long bones, as well as those patients who suffer from severe scoliosis.
 * Rehabilitation Methods: Rehabilitation methods focus on muscle strengthening and respiratory conditioning which is often a condition of those suffering from OI
 * Dental Treatment: Those with Dentiogenesis Imperfecta suffer from fragile teeth which can be capped to prevent breakage.

>>> References >>>


 * What is Osteogenesis Imperfecta? ||= Classification ||= The Genes Involved ||= Diagnosis and Treatment ||= References ||

Research by: Stacey St.Hilaire University of New Hampshire at Manchester Genomics and Bioinformatics