This poor quality type I collagen is present in reduced amounts in the bone matrix. [oif.org]

Presents at preschool age (tarda). Hearing deficit in 50%. [orthobullets.com]

PRESENTATION OF OSTEOGENESIS IMPERFECTA The presentation of disease varies widely across patient populations. It often varies in severity as you move from type I (mild) to type IV (severe). [gwumc.edu]

A new finding of the present study is that patients less than 2 yr of age had low uNTX/uCr. [academic.oup.com]

However, this is not always possible due to variability in presentation and inability to pinpoint the precise genetic etiology despite extensive genetic testing. [books.google.ro]

• Problems at School

  The absence of obvious symptoms in some children may contribute to problems at school or with peers. [oif.org]

• Collapse

  H ) and lateral ( I and J ) projections, 15 years: “S” scoliosis of thoracic spine (Cobb’s angle: Thoracic vertebra 2–37° to the left - Thoracic vertebra 9–30° to the right - Lumbar vertebra 1); a varying degree of osteoporosis is associated with a collapse [dovepress.com]

• Osteoporosis

  They are used widely in the treatment of osteoporosis in adults and have reduced the risk of fractures in women with postmenopausal osteoporosis, men with osteoporosis, and patients with glucocorticoid-induced osteoporosis in multiple clinical trials. [uptodate.com]

  In bone, this defect results in osteoporosis, thus increasing the tendency to fracture. Besides bone, type I collagen is also a major constituent of dentin, sclerae, ligaments, blood vessels, and skin 4. [radiopaedia.org]

  Juvenile idiopathic osteoporosis: onset around puberty, vertebral fractures at onset, low BMD, resolves after puberty Celiac disease: May or may not have GI symptoms of malabsorption, osteoporosis. [clinicaladvisor.com]

  Current research activities include: heart disease in adult osteogenesis imperfecta, the effect of nutrition on bone growth in osteogenesis imperfecta, osteoporosis in Rett syndrome and a study of the effects of bisphosphonate treatment during microgravity [books.google.ro]

  General radiographic features of osteogenesis imperfecta The radiologic sine qua non of osteogenesis imperfecta is generalized osteoporosis of both the axial and appendicular skeleton. [emedicine.medscape.com]

• Narrow Pelvis

  pelvis, compression fractures, protrusio acetabuli, and shepherd's crook deformities of the femurs Densitometry - DEXA can be used to assess bone mineral density (BMD) in children with milder forms of OI. [ijem.in]

  His skeletal survey showed wormian bones, severe osteopenia, severe thoracolumbar scoliosis, narrow pelvis, tapering ribs with depression of the right chest wall, rhizomelic shortening of upper and lower limbs, acetabular protrusion, bilateral femorotibial [karger.com]

• Flexion Contracture

  Examination of the range of joint motion revealed bilateral flexion contractures of the hips (approximately 40°). Other big and small joints were hypermovable. The patient was able to crawl on all fours. [dovepress.com]

• Short Humerus

  The Child will be shorter or of less than average height for their age, with short humerus and femur. The child will have a fracture when learning to walk. [news-medical.net]

• Low Self-Esteem

  People with OI benefit from counseling and social support, especially when children enter adolescence and might experience low self-esteem and lack of confidence. Support from family and friends is important to make them feel accepted and loved. [healthmagaz.com]

• Neglect

  [Guideline] Kellogg ND, American Academy of Pediatrics Committee on Child Abuse and Neglect. Evaluation of suspected child physical abuse. Pediatrics. 2007 Jun. 119 (6):1232-41. [Medline]. [Full Text]. [emedicine.medscape.com]

• Screaming

  He screams when he is picked up or when someone touches his leg. An x-ray reveals a fractured femur, as well as several healed rib fractures. ...Parents bring their one-year-old daughter to the emergency room. [oif.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]

Establishing a diagnosis As with any disorder, a detailed history is a crucial element of the diagnostic workup. [nature.com]

• Shortened Long Bone

  More severe forms of osteogenesis imperfecta, such as types II and III, feature thickened, shortened long bones with multiple fractures; these forms are often complicated by hyperplastic callus formation (see the following image). [emedicine.medscape.com]

This treatment involves inserting metal rods through the length of the long bones to strengthen them. The treatment also prevents and/or corrects deformities. [checkorphan.org]

Scientists are now studying and exploring new medications and treatments for OI. However, these treatments have not been proven yet, and they need to conduct clinical trials. [healthmagaz.com]

None of the patients required iv Ca substitution during any treatment cycle. [academic.oup.com]

What treatment can be given? The mainstay of treatment is competent orthopaedic care at the time of fractures, to ensure that each fracture heals in a good position. [netdoctor.co.uk]

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 - 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 often depends on the type of OI and thus the severity of the disease. Type I patients often have a normal life expectancy. [gwumc.edu]

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]

Making sure the house is handicapped-friendly and accessible for people with assistive mobility devices is necessary. 9 Prognosis The prognosis or outlook for people with OI greatly depends on which type they have. [healthmagaz.com]

Etiology OI type III can be autosomal dominant and caused by mutations of the COL1A1 and COL1A2 genes (17q21.31-q22 and 7q22.1 respectively), or it can be autosomal recessive and caused by mutations of the CRTAP gene (3p22) (sometimes described as OI [orpha.net]

However, this is not always possible due to variability in presentation and inability to pinpoint the precise genetic etiology despite extensive genetic testing. [books.google.ro]

[…] collagen gives bones strength epidemiology of osteogenesis imperfect (relevance) -50% chance of passing gene and disease to their children -americans 25, 000-50,000 affected (often goes undiagnosed) -35% children born with no family history of it ` etiology [quizlet.com]

Summary Epidemiology The overall prevalence of OI is estimated at between 1/10,000 and 1/20,000 but the prevalence of type III is unknown. [orpha.net]

[…] osteogenesis imperfecta definition -diagnosis which causes brittle bones which are highly susceptible to fractures -individual has a change in collagen production -collagen gives bones strength epidemiology of osteogenesis imperfect (relevance) -50% chance [quizlet.com]

EPIDEMIOLOGY AND PREVALENCE Osteogenesis Imperfecta occurs in approximately 1 in 20,000 live births. More than 200 gene mutations have been associated with the OI phenotype. [gwumc.edu]

Pathophysiology OI is the result of mutations affecting the synthesis and processing of type I collagen, the major protein in bone and connective tissue. [clinicaladvisor.com]

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. Byers PH, Pyott SM. Recessively inherited forms of osteogenesis imperfecta. Annu Rev Genet. 2012;46:475–497. Phillipi CA, Remmington T, Steiner RD. [jci.org]

This classification scheme is likely to change with additional research on pathophysiology of OI. [nature.com]

Pathophysiology In OI, pathologic changes are seen in all tissues of which type 1 collagen is an important constituent (eg, bone, ligament, dentin, and sclera). The basic defect is one of a qualitative or quantitative reduction in type 1 collagen. [emedicine.medscape.com]

Surgery may be performed to correct and prevent deformities in children with OI severe enough to prevent walking. Correction of scoliosis may also be helpful, but difficult due to bone fragility. [myvmc.com]

People with OI are encouraged to exercise as much as possible to promote muscle and bone strength, which can help prevent fractures. [checkorphan.org]

These are used to prevent deformity and promote support or protection. [stanfordchildrens.org]

Once the bones are healed, the patient should undergo low impact exercises to increase mobility and prevent the possibility of future fracture. [healthool.com]