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

Methods Research Subjects The present report presents the results from a clinical and genetic investigation of a consanguineous family recruited from a remote area of Sindh province in Pakistan. [nature.com]

All the patients diagnosed in childhood presented with fractures during this period and 7 of them also presented with new fractures as adults (3 received biphosphonates). The 4 patients diagnosed as adults have had fractures. [reumatologiaclinica.org]

However, most commonly OI presents in childhood with multiple fractures after little or no trauma (type 1/4). Type 4 and 5 OI can be moderately severe, but are very variable. [boostb4.eu]

A relatively high frequency of autosomal recessively inherited osteogenesis imperfecta (OI) type 3 (OI-3) is present in the indigenous black southern African population. [ajol.info]

• 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]

  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]

  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]

  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

  Radiological Examination Radiographic examination of an affected member (IV-2) revealed a severe form of osteopenia, scoliosis, kyphoscoliosis, thoracolumbar scoliosis, deformed narrow pelvis, rhizomelic shortening of the hands and feet, tapering ribs [nature.com]

  Eventually, the wide rib cage overlaps the narrow pelvis. Basilar invagination is an uncommon but potentially fatal occurrence in OI. Vertigo is common in patients with severe OI. [emedicine.medscape.com]

  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]

• 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]

  59.57˚, fractures of the 10th, 11th, and 12th right ribs, protrusion of the acetabular roof projecting toward the pelvis, fracture of the right femoral head, opacification of the growth plate of the left femoral head associated with coxa magna, and neglected [cureus.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]

• Cavitary Lesion

  Ehlers-Danlos syndrome with recurrent spontaneous pneumothoraces and cavitary lesion on chest X-ray as the initial complications. Intern Med 2009;48:717–722. 2. Peros-Golubicić T, Tekavec-Trkanjec J. [atsjournals.org]

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]

Management and Treatment How is osteogenesis imperfecta (OI) treated? The goal of treatment is to increase bone strength and help people with OI live more independently. [my.clevelandclinic.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]

Current treatments cover three main areas: Physiotherapy Medical treatments Orthopaedic surgeries None of these treatments are curative and they do not address the underlying problem. [boostb4.eu]

Supportive treatment with bisphosphonates can improve the effects of these nonmedicinal treatment modalities. Benefits of bisphosphonate treatment include decreased pain, lower fracture incidence, and better mobility. [link.springer.com]

Prognosis - Osteogenesis imperfecta- type 3 The prognosis for an individual with OI varies greatly depending on the number and severity of symptoms. [checkorphan.org]

The prognosis of type II is very unfavorable, mainly due to pulmonary insufficiency ralated to the small thorax and rib fractures. [thefetus.net]

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]

The prognosis of OI type 2 is poor, with some of the fetuses already dead in utero. Most infants will die in the perinatal period, 60% during the first day. [eurorad.org]

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]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.ro]

[…] 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]

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]

Osteogenesis imperfecta: epidemiology and pathophysiology. Curr Osteoporos Rep. 2007;5(3):91-7. 5. Ромеро Р., Пилу Дж., Дженти Ф., Гидини А., Хоббинс Дж. С. Пренатальная диагностика врожденных пороков развития плода. [thefetus.net]

Mutations can also be caused by CRTAP or PH3H1(LEPRE1) in an autosomal recessive pattern. [14] Pathophysiology The pathophysiology of osteogenesis imperfecta is primarily due to a dysfunction in collagen and is classified under connective tissue diseases [eyewiki.aao.org]

The basic pathophysiology for OI is the mutation in the gene coding for type I collagen [3]. The most widely accepted classification was proposed by Sillence et al. in 1979 [4]. [hindawi.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]

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]

Prevention How can I prevent brittle bone disease? Because brittle bone disease is a genetic condition, you cannot prevent it. If you or your partner has OI or have a relative with the condition, speak with a genetic counselor. [my.clevelandclinic.org]

These are used to prevent deformity and promote support or protection. [chop.edu]