Presentation
Diverticulosis is more likely to present in patients with OI type I, since these patients are more likely to survive to adulthood, due to the milder presentation of the disease. [jscimedcentral.com]
Infants with OI type IV, V and VI, with normal sclerae and normal length, may present only with fracture. [nature.com]
On the contrary, mild forms (type 1) may present with no fractures. [japi.org]
Scoliosis is present in most of the adults shown. One has orthopedic rods in the femurs and tibia, and another has a rod in the radius (arrowheads). [nejm.org]
Presents at preschool age (tarda). Hearing deficit in 50%. [orthobullets.com]
Entire Body System
- Vietnamese
The populations include African Americans, Vietnamese, Burmese, Samoan and First Nation Canadians. [uwcpdx.org]
Musculoskeletal
- Shoulder Pain
One Kirschner wire in the humerus that had been inserted in antegrade fashion caused shoulder pain with subacromial impingement and was removed 85 months post-operatively. [online.boneandjoint.org.uk]
Workup
Only thorough preoperative workup and prompt management can improve the outcome in these patients. 1. Karabiyik L, Parpucu M,Kurtipek O. [ijaweb.org]
Osteogenesis Imperfecta: Differential Diagnosis & Workup. http://emedicine.medscape.com/article/1256726-diagnosis. Website updated: 2008. Website accessed: April 5, 2010. ↑ Gahagan S, Rimsza ME. [physio-pedia.com]
Treatment
Treatment Currently, there is no known cure for osteogenesis imperfecta. The primary focus of treatment is on preventing injuries and maintaining healthy bones. [verywell.com]
Those in the second group receive standard care, which may involve no treatment or treatment with bisphosphonates. Participants in both groups are reviewed at 12 months, 24 months and again at the end of study (between 36-60 months). [isrctn.com]
After the first year of treatment, children who respond to growth hormone may continue treatment for additional years. [raredr.com]
Nonsurgical Treatment In most cases, treatment is nonsurgical. Medication. Medical bisphosphonates, given to the child either by mouth or intravenously, slow down bone resorption. [orthoinfo.aaos.org]
Prognosis
The parents opted to interrupt the pregnancy, based on the diagnosis of a lethal skeletal dysplasia and the associated poor prognosis. The fetus was delivered at 25 weeks’ gestation. [sajr.org.za]
Prognosis is very variable depending on type ranging from being uniformly lethal from type II to a slight reduction in life expectancy for type I. [radiopaedia.org]
Prognosis - Osteogenesis imperfecta- type 3 The prognosis for an individual with OI varies greatly depending on the number and severity of symptoms. [checkorphan.org]
Prognosis The prognosis relies on the type of OI and the severity of symptoms - when OI is fatal, it is most often due to respiratory failure because of reduced lung capacity. [alliedmedtraining.com]
Prognosis The lifespan of people with OI types I, III, and IV is not generally shortened. [healthofchildren.com]
Etiology
Etiology OI type IV can be autosomal dominant and caused by mutations in the COL1A1 and COL1A2 genes (17q21.31-q22 and 7q22.1 respectively) or it can be autosomal recessive and caused by mutations of the PPIB gene (15q21-q22) (sometimes described as OI [orpha.net]
Depending on the etiology of the deformity, these children are often cared for by multiple specialists including pediatricians, pediatric orthopaedists or orthopaedic spine surgeons, neurologists, pediatric surgeons, pediatric neurosurgeons, oncologists [books.google.ro]
Osteogenesis imperfecta type 2 (OI type 2) Osteogenesis imperfecta type 3 Osteogenesis imperfecta type 4 (MIM.166220) Osteogenesis imperfecta with opalescent teeth (MIM.166240) Etiology mutations in COL1s genes mutations in COL1A1 gene (MIM.120150) mutations [humpath.com]
The sequence of diverse pathological events recorded within each family would be almost incomprehensible without a proper etiological understanding of the natural history of each child/family deformity that led to their occurrences. [journals.lww.com]
Epidemiology
Summary Epidemiology The overall prevalence of OI is estimated at between 1/10,000 and 1/20,000 but the prevalence of type IV is unknown. [orpha.net]
Osteogenesis imperfecta in Sweden: Clinical, genetic, epidemiological and sociomedical aspects [Thesis]. Stockholm, Sweden : Svenska bokförlaget, 1961. Google Scholar 21. Stewart, EJ, O'Reilly, BF. [journals.sagepub.com]
Epidemiology Incidence is approximately 1/15,000-1/20,000 live births but this may be underestimated, as milder forms can evade diagnosis [ 7 ]. It is the leading cause of lethal short-limbed dwarfism and skeletal dysplasia. [patient.info]
The pathogenesis of diverticular disease includes environmental, epidemiologic as well as genetic factors, leading to changes in mechanical and structural features of the colonic wall, elevated intraluminal pressure and functional "segmentation" [7]. [jscimedcentral.com]
Pathophysiology
Streamline the decision-making process with integrated protocols, classic signs, and ACR guidelines, as well as a design that structures every chapter consistently to include pathophysiology, imaging techniques, imaging findings, differential diagnosis [books.google.ro]
However, in the past 10 years discoveries of further (mainly recessive) causative genes have lent support to a predominantly collagen-related pathophysiology [ 1 ]. [patient.info]
Osteogenesis imperfecta: epidemiology and pathophysiology. Curr Osteoporos Rep. 2007; 5(3):91–97. doi:10.1007/s11914-007-0023-z [CrossRef] Yao X, Carleton SM, Kettle AD, Melander J, Phillips CL, Wang Y. [healio.com]
Osteogenesis imperfecta:epidemiology and pathophysiology. Curr Osteoporos Rep 2007; 5 :91–7. 15. Forlino A, Cabral WA, Barnes AM, Marini JC. New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol 2011; 7 :540–57. 16. Glorieux FH. [nature.com]
Prevention
Broken bones in children with osteogenesis imperfecta are often treated with surgery in order to stabilize the bones and prevent deformities. [verywell.com]
This should include: Exercise—swimming is often an ideal and safe activity Good nutrition Not smoking Avoiding excessive amounts of alcohol Prevention OI is caused by a genetic defect. There is no known way to prevent it. [cancercarewny.com]
These are used to prevent deformity and promote support or protection. [chop.edu]
People with OI are encouraged to exercise as much as possible to promote muscle and bone strength, which can help prevent fractures. [checkorphan.org]
The good news is that many of these injuries may be preventable by following some simple tips and learning how to avoid accidents and injuries. To learn more, read our tips on playground, swimming, boating, lawn mower and fire safety. [shrinershospitalsforchildren.org]