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

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

Figure 2 X-rays of the presenting osteogenesis imperfecta patient. [dovepress.com]

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

• 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

  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]

  The Resource Center is operated by the National Osteoporosis Foundation, in collaboration with the Paget Foundation and the Osteogenesis Imperfecta Foundation. 11/99 [oif.org]

  […] form of OI, progressive with age, born prematurely and small for gestational age, marked impairment of linear growth, progressive deformity of long bones and spine, blue/gray or white sclerae, dentinogenesis imperfecta, severe bone dysplasia, severe osteoporosis [iofbonehealth.org]

  The doctors may prescribe drugs like bisphosphonates, which are used to treat osteoporosis. They may help reduce the symptoms, especially in children. [healthmagaz.com]

  […] child grows Expandable rods grow with child but only appropriate for longer bones Very thick Must be firmly anchored at both ends Spinal rodding for severe scoliosis If bones strong enough to support rods Bisphosphonate drugs Currently used to treat osteoporosis [en.wikibooks.org]

• 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]

• Chvostek Sign

  The decrease in Ca 2 during the first 3 d was not associated with serious clinical manifestations, although Chvostek’s sign became positive in many patients. None of the patients required iv Ca substitution during any treatment cycle. [academic.oup.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]

Osteogenesis Imperfecta: Differential Diagnosis & Workup. . Website updated: 2008. Website accessed: April 5, 2010. Gahagan S, Rimsza ME. Child Abuse or Osteogenesis Imperfecta: How Can We Tell?. Journal of Pediatrics; 88(5): 987-992. 1991. [physio-pedia.com]

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

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

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]

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]

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]

Long-Term Outlook Your prognosis varies depending on the type of brittle bone disease. Outlooks for the four main types of brittle bone disease are: Type 1 People with type 1 OI can live a normal lifespan with relatively few problems. [focusondisability.org.uk]

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]

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]

Etiology Type 1 collagen is a triple helix formed by two copies of the alpha 1 chain and one copy of the alpha 2 chain. [emedicine.medscape.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]

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]

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]

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]

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]

Mutations in either gene prevent collagen molecules from being assembled correctly. This defect weakens connective tissue, particularly in bone, which causes the bone abnormalities seen in this condition. [bones.emedtv.com]

Significant care issues that arise with OI Type I include gross motor developmental delays, joint and ligament weakness and instability, muscle weakness, the need to prevent fracture cycles, and the necessity of spine protection. [oif.org]

Metal rods can be placed in long bones to prevent fractures, and braces can be worn as protective gear. Surgery and dental procedures can be done on a case-by-case basis, depending on the severity of the disease. [tlc.com]