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Created with Fabric.js 1.4.5 Autosomal Recessive: accounts for small percentage of severe and often lethal cases with changes obvious at birth MILD OSTEOGENESIS IMPERFECTAPresence of osteoporotic bone with thick osteoid seam (unmineralized organic matrix on the surface of a bone) and reduced intercellular matrix SEVERE OSTEOGENESIS IMPERFECTA Reduced cortical bone thickness, lack of normal cortical bone formation, and disorganization of growth plate Fragilitas Ossium An uncommon, hereditary, generalized connective tissue disorder in which the occurrence of multiple fractures rendered inevitable by extreme fragility of the bones Most prevalent of the osteoporosis syndrome in childhood and is characterized by fractures and skeletal deformities Collagen and Hydroxyapatitefor structure, flexibility and strength of bones CLINICAL MANIFESTATIONS: Blue Sclera, Triangular facies, Macrocephaly, Hearing loss,Defective dentition, Pigeon Chest, Limb deformities, Multiple fractures,Multiple ossification centers, Growth retardation. PATHOPHYSIOLOGY TREATMENTA. Pharmacologic treatment B. Cellular and Genetic therapy C. Intramedullary Rod Placement D. Diet and Activity DIAGNOSIS:UltrasonographyPlain RadiographyDensitometry OSTEOGENESIS IMPERFECTA Overall Incidence: approx. 1 case for every 20,000 live births Autosomal Dominant: accounts for the variations in its clinical features
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