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Autosomal dominant COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. [OCOSH Code: D010013 78314001 Q78.0 BD_BDB_OCDYS_OI]

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Osteogenesis Imperfecta Patient Information (4)
Patient Information about Osteogensis Imperfecta

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Osteogenesis Imperfecta POSNA Study Guide

Location: http://www.posna.org/education/StudyGuide/osteogenesisImperfecta.asp

Objectives 1. Describe the basic connective tissue fault of bone in individuals with osteogenesis imperfecta 2. Describe the spectrum of severity of the clinical spectrum of osteogenesis imperfecta 3. Describe the natural history -both in regard to function and survival -of patients with osteogenesis imperfecta 4. Discuss the orthopaedic problems...
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Osteogenesis Imperfecta Type I OMIM

Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166200

CLINICAL FEATURES Osteogenesis imperfecta (see Byers, 1993) is characterized chiefly by multiple bone fractures, usually resulting from minimal trauma. Affected individuals have blue sclerae, normal teeth, and normal or near-normal stature (for growth curves, see Vetter et al., 1992). Fractures are rare in the neonatal period; fracture tendency is constant...
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osteogenesis imperfecta Type III MedPix

Location: http://rad.usuhs.mil/medpix/parent.php3?mode=single&recnum=2785&table=card&srchstr=osteogenesis%20im ...

osteogenesis imperfecta (OI) is a group of genetic disorders that primarily result in the improper formation of type I collagen. These disorders range in severity from lethality in utero to extremely mild disease resulting in very little difference phenotypically than the unaffected population. The unifying clinical feature of this group...
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Osteogenesis Imperfecta Type III OMIM

Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=259420

#259420 OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE Alternative titles; OSTEOGENESIS IMPERFECTA, TYPE III OI, TYPE III Gene map locus 17q21.31-q22, 7q22.1
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OSTEOGENESIS IMPERFECTA TYPE IV OMIM

Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=166220

Alternative titles OI, TYPE IV OSTEOGENESIS IMPERFECTA WITH NORMAL SCLERAE Gene map locus 17q21.31-q22 TEXT A number sign (#) is used with this entry because osteogenesis imperfecta type IV can be caused by mutation in the COL1A1 gene (120150) or the COL1A2 gene (120160). DESCRIPTION Osteogenesis imperfecta (OI) is a connective tissue disorder that is...
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Osteogenesis Imperfecta Wheeless

Location: http://www.wheelessonline.com/ortho/osteogenesis_imperfecta

Discussion: - disease characterized by failure of maturation and organization of collagen fibers; - defect in collagen (procollagen to type I collagen sequence and abnormal cross linking) leading to decreased collagen secretion, bone fragility; ...
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Osteogensis Imperfecta MedPix 3

Location: http://rad.usuhs.mil/medpix/parent.php3?mode=single&recnum=4321&table=card&srchstr=osteogenesis%20im ...

osteogenesis imperfecta is a Type I collagen disorder affecting the skeleton, ligaments, skin, sclera, and dentin. A majority demonstrates a defect in two genetic loci resulting either abnormal synthesis or abnormal structure of procollagen I. Eighty five percent of genotypes demonstrate heterozygosity of an autosomal dominant mutation. Four major clinical...
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Pamidronate Benefits Limited in Children With Osteogenesis Imperfecta

Location: http://www.medscape.com/viewarticle/525162

NEW YORK (Reuters Health) Mar 08 - In children with osteogenesis imperfect, the value of pamidronate therapy appears to be restricted to the first few years of treatment, according to a report in the February issue of The Journal of Clinical Endocrinology & Metabolism. "Treatment with pamidronate (and likely with other...
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Potential of gene therapy for treating osteogenesis imperfecta

Location: http://www.medscape.com/medline/abstract/11039761

Potential of gene therapy for treating osteogenesis imperfecta. CME AMD Special Report CME Newsletter: Volume 3 Drs. Paul Sternberg and Franco Recchia evaluate possible changes in ophthalmic practice with anti-VEGF agents; Dr. Paul Latkany presents an unusual case; Dr. Robert Bernardino reviews the literature. Click here to learn more. Medscape Newsletters Sign Up...
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PubMed Search for Osteogenesis Imperfecta

Location: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=pubmed&details_term=%22Osteogenesis% ...

Search String "Osteogenesis Imperfecta/surgery"[MAJR] URL http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=pubmed&details_term=%22Osteogenesis%20Imperfecta/surgery%22%5BMAJR%5D
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Rare Bone Tumours

Location: http://www.slideshare.net/naneria/rare-bone-tumours

Illustrated cases from the experience of Dr Vinod Naneria, Indore, MP, India
Cases include synovial chondromatosis, fibromatosis, haemangiomas, Osteochondritis dissecans, Multiple Myeloma, Osteoid Osteoma, Osteochondroma, Lipoma, Fibroma, Non-ossifying Fibroma, Fibrous cortical defects, Paget Disease, Osteogenesis Imperfecta, Osteopetrosis, Hyperparathyroidism, Neurofibromatosis, Neurilemoma
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Short-limb dwarf osteogenesis imperfecta

Location: http://rad.usuhs.mil/medpix/parent.php3?mode=single&recnum=2111&table=card&srchstr=osteogenesis%20im ...

In another fetus at 32 weeks with the same diagnosis (Film 3), there is a smaller abdomen than head (Scans 1 and 2) consistent with growth retardation. The chest (Scan 3) is even smaller, and the limb (right femur shown in Scan 4) is severely foreshortened, bowed and demineralized. Film...
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Whats new in Pediatrics

Location: http://www.medscape.com/viewarticle/413173

Medscape News 2001: Hairy Patches and Twisted Feet: What's New in Pediatrics?
Carl St. Remy, MD Introduction What's new in pediatric orthopaedic diagnostics and treatment techniques? New research on the use of ultrasonographic screening for spinal dysraphism, nonsurgical management of clubfoot deformity, and off-label use of pamidronate for the treatment...
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