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Osteogenesis Imperfecta Type 16

OI


Presentation

  • Infants with OI type IV, V and VI, with normal sclerae and normal length, may present only with fracture.[nature.com]
  • 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]
  • The 2nd revised edition of ‘Calcium and Bone Disorders in Children and Adolescents’ presents up-to-date information on many aspects included in the 1st edition such as the physiology, pathology, diagnosis and management of numerous conditions including[books.google.com]
  • Fact : OI is a genetic disorder of collagen that is present throughout an affected person's lifetime.[oif.org]
  • Differentiating them can be difficult, especially when no other characteristic features of OI are present.[en.wikibooks.org]
High Pitched Voice
  • . - Other features common in people with OI include excessive perspiration, easy bruising, a high-pitched voice, and thin, smooth skin. How Is OI Inherited? Researchers now agree that nearly all cases of OI are caused by a dominant genetic mutation.[oif.org]
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]
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]

Workup

  • Only thorough preoperative workup and prompt management can improve the outcome in these patients. 1. Karabiyik L, Parpucu M,Kurtipek O.[ijaweb.org]

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]
  • Learn more Join us Medical news Over the past several decades, scientists have learned a significant amount about the diagnosis and treatment of bone disease.[oiaustralia.org.au]
  • 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 - Osteogenesis imperfecta- type 3 The prognosis for an individual with OI varies greatly depending on the number and severity of symptoms.[checkorphan.org]
  • 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]
  • […] because it is mildest form Type III often causes fractures at birth, and fractures may occur in utero Compatible with long life, but many die in infancy of respiratory difficulties or in childhood of pneumonia Early intervention and rehab have improved prognosis[en.wikibooks.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]

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]
  • 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]
  • 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]
  • Cell Cycle, 6, 1675-1681. doi:10.4161/cc.6.14.4474 [ 11 ] Tarnowski, M. and Sieroń, A.L. (2008) Osteogenesis imperfecta-etiology, characteristics, current and future treatment.[scirp.org]

Epidemiology

  • 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]
  • 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]
  • 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]
  • 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]
Sex distribution
Age distribution

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]
  • Although bracing is the usual treatment for scoliosis, it is not often effective in children with osteogenesis imperfecta because the ribs will become deformed from the brace, without preventing the scoliosis from worsening.[orthoinfo.aaos.org]
  • People with OI are encouraged to exercise as much as possible to promote muscle and bone strength, which can help prevent fractures.[checkorphan.org]

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